#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
LINGO1	84894	broad.mit.edu	37	15	77906613	77906613	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:77906613C>T	ENST00000355300.6	-	2	1810	c.1636G>A	c.(1636-1638)Gcc>Acc	p.A546T	LINGO1_ENST00000561030.1_Missense_Mutation_p.A540T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	546					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGCACAGTGGCGCGGGTGCTG	0.617																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1636-1638)Gcc>Acc		leucine rich repeat and Ig domain containing 1							112.0	120.0	117.0					15																	77906613		2169	4256	6425	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906613C>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1636G>A	15.37:g.77906613C>T	ENSP00000347451:p.Ala546Thr					LINGO1_ENST00000561030.1_Missense_Mutation_p.A540T	p.A546T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	1810	-			546					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1636G>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645283	0.47258	.	.	ENSG00000169783	ENST00000355300	T	0.53423	0.62	5.36	5.36	0.76844	.	0.052910	0.85682	D	0.000000	T	0.32436	0.0829	N	0.17474	0.49	0.80722	D	1	B	0.27765	0.188	B	0.16722	0.016	T	0.11155	-1.0599	10	0.15499	T	0.54	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	546	Q96FE5	LIGO1_HUMAN	T	546	ENSP00000347451:A546T	ENSP00000347451:A546T	A	-	1	0	LINGO1	75693668	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	4.040000	0.57333	2.509000	0.84616	0.561000	0.74099	GCC		0.617	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		18	97	0	0	0	1	0	18	97				
DNMT1	1786	broad.mit.edu	37	19	10250385	10250385	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:10250385G>A	ENST00000340748.4	-	33	4102	c.3867C>T	c.(3865-3867)cgC>cgT	p.R1289R	DNMT1_ENST00000359526.4_Silent_p.R1305R|DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000540357.1_Silent_p.R1289R			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1289	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GATAGCCCATGCGGACCAGGC	0.642																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(3865-3867)cgC>cgT		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						59.0	52.0	54.0					19																	10250385		2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10250385G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3867C>T	19.37:g.10250385G>A						DNMT1_ENST00000540357.1_Silent_p.R1289R|DNMT1_ENST00000359526.4_Silent_p.R1305R	p.R1289R			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		33	4102	-			1289			Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.3867C>T	CCDS12228.1																																																																																				0.642	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		8	15	0	0	0	1	0	8	15				
TENM1	10178	broad.mit.edu	37	X	123654610	123654610	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:123654610G>A	ENST00000371130.3	-	18	3121	c.3058C>T	c.(3058-3060)Ccc>Tcc	p.P1020S	TENM1_ENST00000422452.2_Missense_Mutation_p.P1020S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1020					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AAGCTGGAGGGAATGGGAATT	0.453																																						ENST00000422452.2																			0											c.(3058-3060)Ccc>Tcc		teneurin transmembrane protein 1							46.0	41.0	43.0					X																	123654610		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123654610G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3058C>T	X.37:g.123654610G>A	ENSP00000360171:p.Pro1020Ser					TENM1_ENST00000371130.3_Missense_Mutation_p.P1020S	p.P1020S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					18	3121	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3058C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411546	0.83340	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86956	-2.19;-2.16	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.92378	0.7581	L	0.59967	1.855	0.80722	D	1	D;P;D	0.89917	1.0;0.937;1.0	D;P;D	0.83275	0.996;0.477;0.985	D	0.92204	0.5770	10	0.49607	T	0.09	.	18.5439	0.91039	0.0:0.0:1.0:0.0	.	1019;1020;1020	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	1020	ENSP00000360171:P1020S;ENSP00000403954:P1020S	ENSP00000360171:P1020S	P	-	1	0	ODZ1	123482291	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.942000	0.87708	2.321000	0.78463	0.600000	0.82982	CCC		0.453	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		9	42	0	0	0	1	0	9	42				
ZFP36	7538	broad.mit.edu	37	19	39898406	39898406	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:39898406C>A	ENST00000248673.3	+	2	106	c.48C>A	c.(46-48)gaC>gaA	p.D16E	ZFP36_ENST00000597629.1_Missense_Mutation_p.D22E|MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000594045.1_3'UTR	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	16					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGAGCCCTGACGTGCCCGTGC	0.672																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(64-66)gaC>gaA		ZFP36 ring finger protein							100.0	111.0	107.0					19																	39898406		2202	4297	6499	SO:0001583	missense	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898406C>A	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.48C>A	19.37:g.39898406C>A	ENSP00000248673:p.Asp16Glu					ZFP36_ENST00000248673.3_Missense_Mutation_p.D16E|ZFP36_ENST00000594045.1_3'UTR	p.D22E			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	140	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		16					B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37	c.66C>A		.	.	.	.	.	.	.	.	.	.	C	0.011	-1.711748	0.00712	.	.	ENSG00000128016	ENST00000248673	T	0.19669	2.13	0.217	-0.433	0.12287	.	1.766790	0.03998	N	0.296081	T	0.10937	0.0267	N	0.12182	0.205	0.24006	N	0.996193	B	0.10296	0.003	B	0.09377	0.004	T	0.21999	-1.0229	9	0.27785	T	0.31	-8.5495	.	.	.	.	16	P26651	TTP_HUMAN	E	16	ENSP00000248673:D16E	ENSP00000248673:D16E	D	+	3	2	ZFP36	44590246	0.000000	0.05858	0.496000	0.27539	0.139000	0.21198	-0.217000	0.09253	-0.720000	0.04935	-0.707000	0.03653	GAC		0.672	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				5	278	1	0	2.0095e-06	1	2.12469e-06	5	278				
CPB2	1361	broad.mit.edu	37	13	46629916	46629916	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr13:46629916G>A	ENST00000181383.4	-	10	1084	c.1068C>T	c.(1066-1068)ggC>ggT	p.G356G	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Silent_p.G319G|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	356					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTGAGCCATGGCCATGTGTAT	0.338																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1066-1068)ggC>ggT		carboxypeptidase B2 (plasma)							107.0	106.0	107.0					13																	46629916		2203	4299	6502	SO:0001819	synonymous_variant	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46629916G>A	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.1068C>T	13.37:g.46629916G>A						CPB2_ENST00000439329.3_Silent_p.G319G|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA	p.G356G	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	10	1084	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	356					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Silent	SNP	ENST00000181383.4	37	c.1068C>T	CCDS9401.1																																																																																				0.338	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		8	43	0	0	0	1	0	8	43				
ATP8B1	5205	broad.mit.edu	37	18	55328606	55328606	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr18:55328606G>A	ENST00000283684.4	-	21	2506	c.2507C>T	c.(2506-2508)aCc>aTc	p.T836I	ATP8B1_ENST00000536015.1_Missense_Mutation_p.T836I|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	836					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TTTACTTTGGGTCCGCATCCG	0.473																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(2506-2508)aCc>aTc		ATPase, aminophospholipid transporter, class I, type 8B, member 1							82.0	87.0	85.0					18																	55328606		2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55328606G>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2507C>T	18.37:g.55328606G>A	ENSP00000283684:p.Thr836Ile					RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.T836I|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA	p.T836I	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			22	2626	-		Colorectal(73;0.229)	836					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.2507C>T	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	1.909	-0.451254	0.04572	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.27890	1.64;1.64	5.63	4.75	0.60458	HAD-like domain (1);	0.648873	0.17175	N	0.184102	T	0.04092	0.0114	N	0.00024	-2.695	0.24151	N	0.995699	B	0.18610	0.029	B	0.21917	0.037	T	0.35276	-0.9795	10	0.02654	T	1	.	5.2282	0.15406	0.186:0.1884:0.6256:0.0	.	836	O43520	AT8B1_HUMAN	I	836	ENSP00000283684:T836I;ENSP00000445359:T836I	ENSP00000283684:T836I	T	-	2	0	ATP8B1	53479604	0.001000	0.12720	0.928000	0.36995	0.934000	0.57294	0.700000	0.25601	1.342000	0.45619	0.557000	0.71058	ACC		0.473	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		17	67	0	0	0	1	0	17	67				
THRAP3	9967	broad.mit.edu	37	1	36752352	36752352	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:36752352G>A	ENST00000354618.5	+	4	745	c.521G>A	c.(520-522)cGc>cAc	p.R174H	THRAP3_ENST00000469141.2_Missense_Mutation_p.R174H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	174	Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTTCTAAGCGCAAGTCTGCA	0.517			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(520-522)cGc>cAc		thyroid hormone receptor associated protein 3							188.0	199.0	195.0					1																	36752352		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752352G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.521G>A	1.37:g.36752352G>A	ENSP00000346634:p.Arg174His					THRAP3_ENST00000469141.2_Missense_Mutation_p.R174H	p.R174H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	745	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	174			Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.521G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136105	0.37728	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.14022	2.54;2.54	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.23289	0.0563	L	0.59436	1.845	0.42438	D	0.992706	P	0.51791	0.948	P	0.47015	0.534	T	0.00360	-1.1790	10	0.46703	T	0.11	-1.2594	18.8828	0.92364	0.0:0.0:1.0:0.0	.	174	Q9Y2W1	TR150_HUMAN	H	174	ENSP00000346634:R174H;ENSP00000433825:R174H	ENSP00000346634:R174H	R	+	2	0	THRAP3	36524939	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.561000	0.53770	2.711000	0.92665	0.655000	0.94253	CGC		0.517	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		5	368	0	0	0	1	0	5	368				
DCTN1	1639	broad.mit.edu	37	2	74598256	74598256	+	Silent	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:74598256T>C	ENST00000361874.3	-	9	1010	c.693A>G	c.(691-693)ctA>ctG	p.L231L	DCTN1_ENST00000409868.1_Silent_p.L214L|DCTN1_ENST00000409567.3_Silent_p.L211L|DCTN1_ENST00000409240.1_Silent_p.L194L|DCTN1_ENST00000409438.1_Silent_p.L97L|DCTN1_ENST00000394003.3_Silent_p.L224L|DCTN1_ENST00000407639.2_Silent_p.L97L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	231					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCAGGGTCTCTAGTTTCTCCT	0.547																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(691-693)ctA>ctG		dynactin 1							266.0	273.0	271.0					2																	74598256		2203	4300	6503	SO:0001819	synonymous_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74598256T>C		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.693A>G	2.37:g.74598256T>C						DCTN1_ENST00000409240.1_Silent_p.L194L|DCTN1_ENST00000409567.3_Silent_p.L211L|DCTN1_ENST00000407639.2_Silent_p.L97L|DCTN1_ENST00000409868.1_Silent_p.L214L|DCTN1_ENST00000409438.1_Silent_p.L97L|DCTN1_ENST00000394003.3_Silent_p.L224L	p.L231L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			9	1010	-			231					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.693A>G	CCDS1939.1																																																																																				0.547	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		110	338	0	0	0	1	0	110	338				
CFAP54	144535	broad.mit.edu	37	12	97137545	97137545	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:97137545T>C	ENST00000524981.4	+	54	7437	c.7414T>C	c.(7414-7416)Tct>Cct	p.S2472P				Q96N23	CL055_HUMAN		0																	TGAATTTATTTCTCCTCAATC	0.353																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(2767-2769)Tct>Cct									31.0	33.0	33.0					12																	97137545		2193	4295	6488	SO:0001583	missense	144535							g.chr12:97137545T>C																												ENST00000524981.4:c.7414T>C	12.37:g.97137545T>C	ENSP00000431759:p.Ser2472Pro						p.S923P			Q6ZTY8	CL063_HUMAN			21	2767	+			897						Missense_Mutation	SNP	ENST00000524981.4	37	c.2767T>C		.	.	.	.	.	.	.	.	.	.	T	18.08	3.544565	0.65198	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.52	5.52	0.82312	.	0.064498	0.64402	D	0.000006	T	0.78104	0.4231	M	0.71581	2.175	0.38255	D	0.941727	D	0.89917	1.0	D	0.91635	0.999	T	0.82694	-0.0330	9	0.87932	D	0	-17.2511	14.8159	0.70034	0.0:0.0:0.0:1.0	.	897	Q6ZTY8	CL063_HUMAN	P	2472;897	.	ENSP00000345466:S897P	S	+	1	0	C12orf63	95661676	1.000000	0.71417	0.996000	0.52242	0.687000	0.40016	5.235000	0.65348	2.096000	0.63516	0.459000	0.35465	TCT		0.353	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			18	23	0	0	0	1	0	18	23				
KCNF1	3754	broad.mit.edu	37	2	11053054	11053054	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:11053054G>A	ENST00000295082.1	+	1	992	c.502G>A	c.(502-504)Gtc>Atc	p.V168I		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	168					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCAGAAGTGCGTCTGGAAGTT	0.692																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(502-504)Gtc>Atc		potassium voltage-gated channel, subfamily F, member 1							30.0	40.0	37.0					2																	11053054		2190	4278	6468	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053054G>A	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.502G>A	2.37:g.11053054G>A	ENSP00000295082:p.Val168Ile						p.V168I	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	992	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		168					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.502G>A	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537283	0.27475	.	.	ENSG00000162975	ENST00000295082	D	0.97791	-4.54	5.19	2.21	0.28008	.	0.335182	0.31347	N	0.007819	D	0.90045	0.6891	N	0.11673	0.155	0.35987	D	0.836435	B	0.02656	0.0	B	0.01281	0.0	D	0.83646	0.0153	10	0.11794	T	0.64	.	3.9919	0.09541	0.2602:0.3717:0.3681:0.0	.	168	Q9H3M0	KCNF1_HUMAN	I	168	ENSP00000295082:V168I	ENSP00000295082:V168I	V	+	1	0	KCNF1	10970505	0.928000	0.31464	0.984000	0.44739	0.990000	0.78478	1.478000	0.35442	1.306000	0.44926	0.563000	0.77884	GTC		0.692	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		4	68	0	0	0	1	0	4	68				
TAS2R30	259293	broad.mit.edu	37	12	11285960	11285960	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:11285960C>T	ENST00000539585.1	-	1	1283	c.884G>A	c.(883-885)cGg>cAg	p.R295Q	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	295					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CCTCACATGCCGCAAAACTGA	0.428																																						ENST00000539585.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						c.(883-885)cGg>cAg		taste receptor, type 2, member 30							145.0	145.0	145.0					12																	11285960		1968	4191	6159	SO:0001583	missense	259293							g.chr12:11285960C>T	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.884G>A	12.37:g.11285960C>T	ENSP00000444736:p.Arg295Gln					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.R295Q	NM_001097643.1	NP_001091112.1					1	1283	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.884G>A	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	7.466	0.645745	0.14451	.	.	ENSG00000256188	ENST00000539585	T	0.38560	1.13	2.55	1.63	0.23807	.	.	.	.	.	T	0.25680	0.0625	N	0.25426	0.745	0.09310	N	1	B	0.21821	0.061	B	0.13407	0.009	T	0.17410	-1.0370	9	0.33940	T	0.23	.	5.1816	0.15163	0.0:0.8232:0.0:0.1768	.	295	P59541	T2R30_HUMAN	Q	295	ENSP00000444736:R295Q	ENSP00000444736:R295Q	R	-	2	0	TAS2R30	11177227	0.040000	0.19996	0.004000	0.12327	0.002000	0.02628	1.127000	0.31357	0.396000	0.25283	0.313000	0.20887	CGG		0.428	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		33	192	0	0	0	1	0	33	192				
ANXA6	309	broad.mit.edu	37	5	150497394	150497394	+	Nonsense_Mutation	SNP	A	A	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:150497394A>C	ENST00000354546.5	-	19	1670	c.1443T>G	c.(1441-1443)taT>taG	p.Y481*	ANXA6_ENST00000356496.5_Nonsense_Mutation_p.Y481*|ANXA6_ENST00000521512.1_Nonsense_Mutation_p.Y274*|ANXA6_ENST00000377751.5_Nonsense_Mutation_p.Y138*|ANXA6_ENST00000523714.1_Nonsense_Mutation_p.Y449*	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	481					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGACTTGTGATAGTCTGAGG	0.572																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(1441-1443)taT>taG		annexin A6							45.0	49.0	48.0					5																	150497394		1943	4136	6079	SO:0001587	stop_gained	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150497394A>C	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1443T>G	5.37:g.150497394A>C	ENSP00000346550:p.Tyr481*					ANXA6_ENST00000356496.5_Nonsense_Mutation_p.Y481*|ANXA6_ENST00000523714.1_Nonsense_Mutation_p.Y449*|ANXA6_ENST00000377751.5_Nonsense_Mutation_p.Y138*|ANXA6_ENST00000521512.1_Nonsense_Mutation_p.Y274*	p.Y481*	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	1670	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	481					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Nonsense_Mutation	SNP	ENST00000354546.5	37	c.1443T>G	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	A	40	7.945387	0.98574	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	.	.	.	5.25	2.9	0.33743	.	0.065478	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.217	0.20661	0.6623:0.0:0.3377:0.0	.	.	.	.	X	481;449;138;481;274;355	.	ENSP00000346550:Y481X	Y	-	3	2	ANXA6	150477587	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.136000	0.31467	0.838000	0.34948	0.459000	0.35465	TAT		0.572	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		7	19	0	0	0	1	0	7	19				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					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.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>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.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	46	0	0	0	1	0	3	46				
ZNF292	23036	broad.mit.edu	37	6	87964638	87964638	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:87964638G>C	ENST00000369577.3	+	8	1334	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E426Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	431						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TTTACGCTGTGAGCTGTTACT	0.393																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(1291-1293)Gag>Cag		zinc finger protein 292							73.0	68.0	69.0					6																	87964638		1856	4088	5944	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87964638G>C	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1291G>C	6.37:g.87964638G>C	ENSP00000358590:p.Glu431Gln					ZNF292_ENST00000339907.4_Missense_Mutation_p.E426Q	p.E431Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1334	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	431					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.1291G>C	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942507	0.73672	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.48201	0.82;0.82	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.66107	0.2756	M	0.73217	2.22	0.58432	D	0.999994	D	0.89917	1.0	D	0.79784	0.993	T	0.66500	-0.5908	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	431	O60281	ZN292_HUMAN	Q	431;426	ENSP00000358590:E431Q;ENSP00000342847:E426Q	ENSP00000342847:E426Q	E	+	1	0	ZNF292	88021357	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GAG		0.393	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		14	26	0	0	0	1	0	14	26				
ARHGEF17	9828	broad.mit.edu	37	11	73020819	73020819	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:73020819C>G	ENST00000263674.3	+	1	1486	c.1136C>G	c.(1135-1137)tCg>tGg	p.S379W	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	379					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						AGCTTTCCCTCGTACCTGGCC	0.642																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1135-1137)tCg>tGg		Rho guanine nucleotide exchange factor (GEF) 17							47.0	40.0	42.0					11																	73020819		2195	4283	6478	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.chr11:73020819C>G	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.1136C>G	11.37:g.73020819C>G	ENSP00000263674:p.Ser379Trp						p.S379W	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1486	+			379					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1136C>G	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386588	0.25031	.	.	ENSG00000110237	ENST00000263674	T	0.60040	0.22	4.85	3.87	0.44632	.	0.183165	0.26832	N	0.022266	T	0.43322	0.1242	N	0.14661	0.345	0.09310	N	0.999997	P	0.52463	0.953	P	0.44811	0.461	T	0.44360	-0.9333	10	0.87932	D	0	-1.4642	12.6076	0.56532	0.1664:0.8336:0.0:0.0	.	379	Q96PE2	ARHGH_HUMAN	W	379	ENSP00000263674:S379W	ENSP00000263674:S379W	S	+	2	0	ARHGEF17	72698467	0.992000	0.36948	0.045000	0.18777	0.394000	0.30568	4.788000	0.62439	2.244000	0.73946	0.462000	0.41574	TCG		0.642	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		26	63	0	0	0	1	0	26	63				
RIPPLY3	53820	broad.mit.edu	37	21	38390309	38390309	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr21:38390309G>T	ENST00000329553.2	+	4	585	c.375G>T	c.(373-375)gaG>gaT	p.E125D	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	125					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											AAGCTGAAGAGCCAGAGGAAG	0.597																																						ENST00000329553.2																			0											c.(373-375)gaG>gaT		ripply transcriptional repressor 3							42.0	41.0	41.0					21																	38390309		2203	4300	6503	SO:0001583	missense	53820							g.chr21:38390309G>T	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"""Down syndrome critical region gene 6"", ""ripply3 homolog (zebrafish)"""	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.375G>T	21.37:g.38390309G>T	ENSP00000331734:p.Glu125Asp					RIPPLY3_ENST00000485272.1_3'UTR	p.E125D	NM_018962.2	NP_061835.1					4	585	+									Missense_Mutation	SNP	ENST00000329553.2	37	c.375G>T	CCDS13648.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.024186	0.19433	.	.	ENSG00000183145	ENST00000329553	.	.	.	4.77	-3.59	0.04583	.	0.816645	0.10629	N	0.652439	T	0.30103	0.0754	L	0.50333	1.59	0.09310	N	1	B	0.28552	0.215	B	0.26310	0.068	T	0.19257	-1.0311	9	0.30078	T	0.28	-12.0777	6.7272	0.23363	0.5147:0.1351:0.3502:0.0	.	125	P57055	DSCR6_HUMAN	D	125	.	ENSP00000331734:E125D	E	+	3	2	DSCR6	37312179	0.036000	0.19791	0.000000	0.03702	0.023000	0.10783	-0.056000	0.11787	-0.904000	0.03876	0.561000	0.74099	GAG		0.597	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			14	21	1	0	0.000151284	1	0.000156958	14	21				
EPB41L2	2037	broad.mit.edu	37	6	131199330	131199330	+	Missense_Mutation	SNP	G	G	A	rs374441396		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:131199330G>A	ENST00000337057.3	-	14	2138	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C	EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R653C|EPB41L2_ENST00000530757.1_Missense_Mutation_p.R52C|EPB41L2_ENST00000524581.1_Missense_Mutation_p.R31C|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	653	Spectrin--actin-binding.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATAAAATTGCGCTTGAGTTCA	0.458																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1957-1959)Cgc>Tgc		erythrocyte membrane protein band 4.1-like 2		G	,,,,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	205.0	172.0	183.0		,,,,1957	5.7	1.0	6		183	0,8600		0,0,4300	no	intron,intron,intron,intron,missense	EPB41L2	NM_001135554.1,NM_001135555.2,NM_001199388.1,NM_001199389.1,NM_001431.3	,,,,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,probably-damaging	,,,,653/1006	131199330	1,13005	2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131199330G>A	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1957C>T	6.37:g.131199330G>A	ENSP00000338481:p.Arg653Cys					EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530757.1_Missense_Mutation_p.R52C|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R653C|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.R31C	p.R653C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	14	2138	-	Breast(56;0.0639)		653			Spectrin--actin-binding.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1957C>T	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.437709|4.437709	0.83885|0.83885	2.27E-4|2.27E-4	0.0|0.0	ENSG00000079819|ENSG00000079819	ENST00000456097|ENST00000337057;ENST00000530757;ENST00000368128;ENST00000524581;ENST00000527017;ENST00000527423;ENST00000525198	.|D;D;D;D;T	.|0.89196	.|-2.48;-1.86;-2.48;-2.02;1.8	5.74|5.74	5.74|5.74	0.90152|0.90152	.|SAB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94231|0.94231	0.8148|0.8148	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.975;0.999	D|D	0.93859|0.93859	0.7152|0.7152	5|10	.|0.62326	.|D	.|0.03	.|.	19.9254|19.9254	0.97100|0.97100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|653;31	.|O43491;Q6R5J7	.|E41L2_HUMAN;.	V|C	143|653;52;653;31;31;52;31	.|ENSP00000338481:R653C;ENSP00000436349:R52C;ENSP00000357110:R653C;ENSP00000437207:R31C;ENSP00000437295:R52C	.|ENSP00000338481:R653C	A|R	-|-	2|1	0|0	EPB41L2|EPB41L2	131241023|131241023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.014000|6.014000	0.70784|0.70784	2.710000|2.710000	0.92621|0.92621	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.458	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			17	48	0	0	0	1	0	17	48				
LRP5	4041	broad.mit.edu	37	11	68115508	68115508	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:68115508G>A	ENST00000294304.7	+	2	391	c.285G>A	c.(283-285)acG>acA	p.T95T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	95	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAACCAGACGGGGGCCGCCG	0.632																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(283-285)acG>acA		low density lipoprotein receptor-related protein 5							112.0	100.0	104.0					11																	68115508		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68115508G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.285G>A	11.37:g.68115508G>A							p.T95T	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			2	391	+			95			Beta-propeller 1.		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.285G>A	CCDS8181.1																																																																																				0.632	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		4	204	0	0	0	1	0	4	204				
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303																																						ENST00000582557.1																			0																																																			440423							g.chr17:29061941T>C																													17.37:g.29061941T>C														0	861	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.303	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			6	46	0	0	0	1	0	6	46				
SYNPO2L	79933	broad.mit.edu	37	10	75407581	75407581	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr10:75407581C>T	ENST00000394810.2	-	4	1978	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R386H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	610	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCGCTGCTCGCGAGCGCTGGG	0.706																																						ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1828-1830)cGc>cAc		synaptopodin 2-like							23.0	28.0	26.0					10																	75407581		1994	4159	6153	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75407581C>T	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1829G>A	10.37:g.75407581C>T	ENSP00000378289:p.Arg610His					SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R386H|SYNPO2L_ENST00000372872.4_Intron	p.R610H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	1978	-	Prostate(51;0.0112)		610			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.1829G>A	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239167	0.79800	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27720	1.65;1.94	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.45086	-0.9285	10	0.45353	T	0.12	-16.451	18.541	0.91027	0.0:1.0:0.0:0.0	.	610;386	Q9H987;Q9H987-2	SYP2L_HUMAN;.	H	386;610	ENSP00000361964:R386H;ENSP00000378289:R610H	ENSP00000361964:R386H	R	-	2	0	SYNPO2L	75077587	0.267000	0.24122	0.910000	0.35882	0.809000	0.45718	3.652000	0.54439	2.610000	0.88304	0.549000	0.68633	CGC		0.706	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		20	89	0	0	0	1	0	20	89				
NOTCH2	4853	broad.mit.edu	37	1	120458296	120458296	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:120458296C>G	ENST00000256646.2	-	34	7268	c.7049G>C	c.(7048-7050)aGt>aCt	p.S2350T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2350					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAGCCACACTGGGCAAACG	0.627			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(7048-7050)aGt>aCt		notch 2							89.0	100.0	97.0					1																	120458296		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120458296C>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.7049G>C	1.37:g.120458296C>G	ENSP00000256646:p.Ser2350Thr						p.S2350T	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	34	7268	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	2350					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.7049G>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	7.002	0.555145	0.13436	.	.	ENSG00000134250	ENST00000256646	D	0.82255	-1.59	5.4	1.85	0.25348	.	0.333100	0.21582	U	0.072221	T	0.42743	0.1216	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.38200	-0.9672	10	0.15066	T	0.55	.	11.3713	0.49702	0.0:0.8201:0.0:0.1799	.	2350	Q04721	NOTC2_HUMAN	T	2350	ENSP00000256646:S2350T	ENSP00000256646:S2350T	S	-	2	0	NOTCH2	120259819	0.000000	0.05858	0.034000	0.17996	0.987000	0.75469	0.348000	0.20031	0.173000	0.19788	0.561000	0.74099	AGT		0.627	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		44	144	0	0	0	1	0	44	144				
HIST3H3	8290	broad.mit.edu	37	1	228612911	228612911	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:228612911G>A	ENST00000366696.1	-	1	115	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	39					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				GTAGCGGTGCGGCTTCTTCAC	0.672																																						ENST00000366696.1																			0				large_intestine(1)|lung(2)|prostate(2)|skin(1)	6						c.(115-117)cCg>cTg		histone cluster 3, H3							43.0	50.0	48.0					1																	228612911		2200	4297	6497	SO:0001583	missense	8290				nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:228612911G>A	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"""Histones / Replication-dependent"""	4778	protein-coding gene	gene with protein product		602820	"""H3 histone family, member T"", ""histone 3, H3"""	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.116C>T	1.37:g.228612911G>A	ENSP00000355657:p.Pro39Leu						p.P39L	NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN			1	115	-		Prostate(94;0.0724)	39					B2R5K3|Q6FGU4	Missense_Mutation	SNP	ENST00000366696.1	37	c.116C>T	CCDS1572.1	.	.	.	.	.	.	.	.	.	.	g	9.895	1.205415	0.22205	.	.	ENSG00000168148	ENST00000366696	T	0.46451	0.87	3.83	3.83	0.44106	Histone-fold (2);	0.000000	0.39210	N	0.001435	T	0.60431	0.2268	M	0.88704	2.975	0.54753	D	0.999987	D	0.61080	0.989	P	0.52386	0.697	T	0.71695	-0.4515	10	0.87932	D	0	.	14.0645	0.64819	0.0:0.0:1.0:0.0	.	39	Q16695	H31T_HUMAN	L	39	ENSP00000355657:P39L	ENSP00000355657:P39L	P	-	2	0	HIST3H3	226679534	1.000000	0.71417	0.963000	0.40424	0.034000	0.12701	7.153000	0.77428	2.403000	0.81681	0.598000	0.82781	CCG		0.672	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493		23	90	0	0	0	1	0	23	90				
FOXM1	2305	broad.mit.edu	37	12	2983350	2983350	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:2983350C>A	ENST00000359843.3	-	2	363	c.295G>T	c.(295-297)Ggc>Tgc	p.G99C	FOXM1_ENST00000537018.1_5'Flank|FOXM1_ENST00000342628.2_Missense_Mutation_p.G99C|FOXM1_ENST00000361953.3_Missense_Mutation_p.G99C	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	99					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CCACTACTGCCACTCTCTTTT	0.537																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(295-297)Ggc>Tgc		forkhead box M1							163.0	139.0	147.0					12																	2983350		2203	4300	6503	SO:0001583	missense	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2983350C>A	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.295G>T	12.37:g.2983350C>A	ENSP00000352901:p.Gly99Cys					FOXM1_ENST00000361953.3_Missense_Mutation_p.G99C|FOXM1_ENST00000359843.3_Missense_Mutation_p.G99C	p.G99C	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		2	408	-			99					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.295G>T	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028323	0.75390	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.98264	-4.41;-4.83;-4.69	5.15	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.98698	0.9563	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99768	1.1023	10	0.87932	D	0	.	14.6637	0.68891	0.0:0.854:0.146:0.0	.	99;99;99;99;99	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	C	99	ENSP00000342307:G99C;ENSP00000354492:G99C;ENSP00000352901:G99C	ENSP00000342307:G99C	G	-	1	0	FOXM1	2853611	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.201000	0.77847	1.337000	0.45525	0.655000	0.94253	GGC		0.537	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		48	73	1	0	1.47857e-17	1	1.62545e-17	48	73				
GNA11	2767	broad.mit.edu	37	19	3114962	3114962	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:3114962G>A	ENST00000078429.4	+	4	739	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	166					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GACGTTGACCGCATCGCCACC	0.677			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		0				endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(496-498)cGc>cAc		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							92.0	78.0	82.0					19																	3114962		2203	4299	6502	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3114962G>A	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.497G>A	19.37:g.3114962G>A	ENSP00000078429:p.Arg166His						p.R166H	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	4	739	+		Hepatocellular(1079;0.137)	166					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.497G>A	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	19.08	3.757625	0.69648	.	.	ENSG00000088256	ENST00000078429	D	0.91996	-2.95	3.62	3.62	0.41486	G protein alpha subunit, helical insertion (2);	0.000000	0.64402	U	0.000002	D	0.97201	0.9085	H	0.96662	3.86	0.54753	D	0.999989	D	0.89917	1.0	D	0.73708	0.981	D	0.98413	1.0573	10	0.87932	D	0	.	14.2446	0.65981	0.0:0.0:1.0:0.0	.	166	P29992	GNA11_HUMAN	H	166	ENSP00000078429:R166H	ENSP00000078429:R166H	R	+	2	0	GNA11	3065962	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	9.626000	0.98410	1.752000	0.51891	0.556000	0.70494	CGC		0.677	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		4	150	0	0	0	1	0	4	150				
ZBTB11	27107	broad.mit.edu	37	3	101370490	101370490	+	Silent	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:101370490A>G	ENST00000312938.4	-	11	3262	c.2682T>C	c.(2680-2682)gcT>gcC	p.A894A		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	894					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(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CATCAGCCCAAGCTACTCCAC	0.423																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2680-2682)gcT>gcC		zinc finger and BTB domain containing 11							74.0	74.0	74.0					3																	101370490		2203	4300	6503	SO:0001819	synonymous_variant	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101370490A>G	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2682T>C	3.37:g.101370490A>G							p.A894A	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			11	3262	-			894					Q2NKP9	Silent	SNP	ENST00000312938.4	37	c.2682T>C	CCDS2943.1																																																																																				0.423	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		18	66	0	0	0	1	0	18	66				
PFKM	5213	broad.mit.edu	37	12	48535703	48535703	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:48535703A>G	ENST00000312352.7	+	17	1546	c.1507A>G	c.(1507-1509)Aca>Gca	p.T503A	PFKM_ENST00000547587.1_Missense_Mutation_p.T503A|PFKM_ENST00000551804.1_Missense_Mutation_p.T472A|PFKM_ENST00000395233.2_Missense_Mutation_p.T472A|PFKM_ENST00000359794.5_Missense_Mutation_p.T503A|PFKM_ENST00000340802.6_Missense_Mutation_p.T574A	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	503	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						tTAGGCTTACACAGGGGGCCT	0.547																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1720-1722)Aca>Gca		phosphofructokinase, muscle							113.0	96.0	102.0					12																	48535703		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48535703A>G	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1507A>G	12.37:g.48535703A>G	ENSP00000309438:p.Thr503Ala					PFKM_ENST00000551804.1_Missense_Mutation_p.T472A|PFKM_ENST00000359794.5_Missense_Mutation_p.T503A|PFKM_ENST00000395233.2_Missense_Mutation_p.T472A|PFKM_ENST00000312352.7_Missense_Mutation_p.T503A|PFKM_ENST00000547587.1_Missense_Mutation_p.T503A	p.T574A	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			19	1944	+			503					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.1720A>G	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.434555	0.25813	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352;ENST00000546465	D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.1	5.1	0.69264	Phosphofructokinase domain (2);	0.361824	0.31784	N	0.007063	T	0.72732	0.3497	L	0.43701	1.375	0.41518	D	0.98838	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.16722	0.016;0.011;0.003	T	0.67023	-0.5775	10	0.10111	T	0.7	-12.3443	15.0135	0.71567	1.0:0.0:0.0:0.0	.	472;503;574	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	A	574;503;472;472;503;503;118	ENSP00000345771:T574A;ENSP00000352842:T503A;ENSP00000378656:T472A;ENSP00000448177:T472A;ENSP00000449426:T503A;ENSP00000309438:T503A;ENSP00000446519:T118A	ENSP00000309438:T503A	T	+	1	0	PFKM	46821970	0.057000	0.20700	1.000000	0.80357	0.974000	0.67602	0.651000	0.24873	2.279000	0.76181	0.533000	0.62120	ACA		0.547	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		22	42	0	0	0	1	0	22	42				
TAS2R38	5726	broad.mit.edu	37	7	141672669	141672669	+	Missense_Mutation	SNP	C	C	T	rs139085046	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:141672669C>T	ENST00000547270.1	-	1	904	c.821G>A	c.(820-822)cGc>cAc	p.R274H		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	274					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.R274H(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TATTTTGTCGCGCCACAGAAT	0.502																																						ENST00000547270.1																			1	Substitution - Missense(1)	p.R274H(1)	kidney(1)	NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(820-822)cGc>cAc		taste receptor, type 2, member 38		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	74.0	75.0		821	0.7	0.4	7	dbSNP_134	75	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TAS2R38	NM_176817.4	29	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	274/334	141672669	5,13001	2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141672669C>T	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.821G>A	7.37:g.141672669C>T	ENSP00000448219:p.Arg274His						p.R274H	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	904	-	Melanoma(164;0.0171)		274					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.821G>A	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	C	0.112	-1.137168	0.01742	2.27E-4	4.65E-4	ENSG00000257138	ENST00000547270	T	0.00745	5.75	4.35	0.706	0.18133	.	0.826911	0.10796	N	0.633258	T	0.00328	0.0010	N	0.00690	-1.25	0.09310	N	0.99999	B	0.06786	0.001	B	0.04013	0.001	T	0.41070	-0.9529	10	0.20046	T	0.44	.	6.29	0.21054	0.0:0.3047:0.0:0.6953	.	274	P59533	T2R38_HUMAN	H	274	ENSP00000448219:R274H	ENSP00000331291:R274H	R	-	2	0	TAS2R38	141319138	0.048000	0.20356	0.396000	0.26296	0.035000	0.12851	0.491000	0.22419	0.122000	0.18314	-1.004000	0.02495	CGC		0.502	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		18	81	0	0	0	1	0	18	81				
TSPYL5	85453	broad.mit.edu	37	8	98289480	98289480	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr8:98289480G>A	ENST00000322128.3	-	1	696	c.593C>T	c.(592-594)aCg>aTg	p.T198M		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	198					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GCTGCCTTCCGTCGCTGGGGG	0.622																																						ENST00000322128.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(592-594)aCg>aTg		TSPY-like 5							81.0	84.0	83.0					8																	98289480		2203	4300	6503	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289480G>A	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.593C>T	8.37:g.98289480G>A	ENSP00000322802:p.Thr198Met						p.T198M	NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN			1	696	-	Breast(36;2.56e-06)		198					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.593C>T	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	G	9.625	1.134838	0.21123	.	.	ENSG00000180543	ENST00000322128	T	0.29917	1.55	4.3	2.46	0.29980	.	1.146690	0.06759	N	0.781521	T	0.19167	0.0460	N	0.25890	0.77	0.09310	N	1	B	0.34200	0.441	B	0.27608	0.081	T	0.20840	-1.0263	10	0.30854	T	0.27	-0.2416	6.0233	0.19640	0.1034:0.1913:0.7053:0.0	.	198	Q86VY4	TSYL5_HUMAN	M	198	ENSP00000322802:T198M	ENSP00000322802:T198M	T	-	2	0	TSPYL5	98358656	0.001000	0.12720	0.008000	0.14137	0.315000	0.28087	0.885000	0.28227	0.727000	0.32360	0.563000	0.77884	ACG		0.622	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		27	86	0	0	0	1	0	27	86				
PYDC1	260434	broad.mit.edu	37	16	31228091	31228091	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:31228091G>A	ENST00000302964.3	-	1	589	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	PYDC1_ENST00000568383.1_5'Flank|TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	87	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CACGCAGCCCGCTGCAGCCGT	0.677																																						ENST00000302964.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(259-261)Cgg>Tgg		PYD (pyrin domain) containing 1							47.0	49.0	48.0					16																	31228091		2197	4298	6495	SO:0001583	missense	260434				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding	g.chr16:31228091G>A		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407	ENST00000302964.3:c.259C>T	16.37:g.31228091G>A	ENSP00000304336:p.Arg87Trp					TRIM72_ENST00000322122.3_Intron	p.R87W	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN			1	589	-			87			DAPIN.		B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	c.259C>T	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864835	0.71949	.	.	ENSG00000169900	ENST00000302964	T	0.52983	0.64	4.11	-7.36	0.01417	Pyrin (2);DEATH-like (2);	3.036110	0.01876	U	0.037583	T	0.55386	0.1917	.	.	.	0.09310	N	1	D	0.71674	0.998	P	0.59889	0.865	T	0.64512	-0.6390	9	0.87932	D	0	.	6.9647	0.24617	0.1061:0.2149:0.5894:0.0897	.	87	Q8WXC3	PYDC1_HUMAN	W	87	ENSP00000304336:R87W	ENSP00000304336:R87W	R	-	1	2	PYDC1	31135592	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.181000	0.00568	-1.082000	0.03101	0.561000	0.74099	CGG		0.677	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		22	61	0	0	0	1	0	22	61				
HNRNPM	4670	broad.mit.edu	37	19	8550638	8550638	+	Silent	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:8550638C>T	ENST00000325495.4	+	14	1367	c.1326C>T	c.(1324-1326)gaC>gaT	p.D442D	HNRNPM_ENST00000348943.3_Silent_p.D403D	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	442	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGGTCATGGACCGCATGGGCT	0.711																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1207-1209)gaC>gaT		heterogeneous nuclear ribonucleoprotein M							64.0	70.0	68.0					19																	8550638		2203	4298	6501	SO:0001819	synonymous_variant	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550638C>T	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1326C>T	19.37:g.8550638C>T						HNRNPM_ENST00000325495.4_Silent_p.D442D	p.D403D	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1441	+			442			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	c.1209C>T	CCDS12203.1																																																																																				0.711	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			52	165	0	0	0	1	0	52	165				
NCR3	259197	broad.mit.edu	37	6	31556510	31556510	+	IGR	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:31556510G>A	ENST00000340027.5	-	0	1042				LST1_ENST00000339530.4_3'UTR|NCR3_ENST00000491161.1_5'Flank|LST1_ENST00000376093.2_3'UTR|LST1_ENST00000376089.2_3'UTR|LST1_ENST00000376090.2_3'UTR|LST1_ENST00000376111.4_Missense_Mutation_p.S62N|LST1_ENST00000438075.2_3'UTR|LST1_ENST00000396101.3_3'UTR|LST1_ENST00000376086.3_3'UTR|LST1_ENST00000376102.3_3'UTR|LST1_ENST00000376096.1_3'UTR|LST1_ENST00000303757.8_3'UTR|LST1_ENST00000418507.2_3'UTR|LST1_ENST00000376099.1_3'UTR|LST1_ENST00000211921.7_3'UTR|LST1_ENST00000376110.3_3'UTR	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3						cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)				cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						CTGTGGTCCAGCCAGTAAAAA	0.532																																						ENST00000376111.4																			0				large_intestine(1)	1						c.(184-186)aGc>aAc		leukocyte specific transcript 1							34.0	34.0	34.0					6																	31556510		1510	2707	4217	SO:0001628	intergenic_variant	7940				cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding	g.chr6:31556510G>A	AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19077	protein-coding gene	gene with protein product		611550	"""lymphocyte antigen 117"""	LY117		8824804, 11782277	Standard	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	O14931	OTTHUMG00000031123		6.37:g.31556510G>A						LST1_ENST00000376110.3_3'UTR|LST1_ENST00000438075.2_3'UTR|LST1_ENST00000376096.1_3'UTR|LST1_ENST00000376090.2_3'UTR|LST1_ENST00000376093.2_3'UTR|LST1_ENST00000418507.2_3'UTR|LST1_ENST00000396101.3_3'UTR|LST1_ENST00000376086.3_3'UTR|LST1_ENST00000376089.2_3'UTR|LST1_ENST00000339530.4_3'UTR|LST1_ENST00000376099.1_3'UTR|LST1_ENST00000211921.7_3'UTR|LST1_ENST00000303757.8_3'UTR|LST1_ENST00000376102.3_3'UTR	p.S62N			O00453	LST1_HUMAN			5	588	+			0					B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Missense_Mutation	SNP	ENST00000340027.5	37	c.185G>A	CCDS34397.1	.	.	.	.	.	.	.	.	.	.	G	6.921	0.539561	0.13250	.	.	ENSG00000204482	ENST00000376111	.	.	.	4.13	2.36	0.29203	.	1.555130	0.04383	N	0.361061	T	0.14614	0.0353	.	.	.	0.09310	N	1	B;B;B	0.16166	0.007;0.007;0.016	B;B;B	0.11329	0.006;0.006;0.003	T	0.29397	-1.0013	8	0.87932	D	0	0.3	5.9631	0.19310	0.0:0.701:0.195:0.1039	.	74;62;117	E7ENG1;A8MT08;E7EMY3	.;.;.	N	62	.	ENSP00000365279:S62N	S	+	2	0	LST1	31664489	0.000000	0.05858	0.011000	0.14972	0.030000	0.12068	-0.409000	0.07160	0.699000	0.31761	-0.313000	0.08912	AGC		0.532	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076210.2			7	38	0	0	0	1	0	7	38				
NLRC4	58484	broad.mit.edu	37	2	32474685	32474685	+	Missense_Mutation	SNP	G	G	A	rs549398450		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:32474685G>A	ENST00000404025.2	-	5	2736	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	NLRC4_ENST00000402280.1_Missense_Mutation_p.R750W|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.R750W			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	750					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCCGGCAGCCGTTGATTCTGT	0.393																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2248-2250)Cgg>Tgg		NLR family, CARD domain containing 4							197.0	200.0	199.0					2																	32474685		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32474685G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2248C>T	2.37:g.32474685G>A	ENSP00000385090:p.Arg750Trp					NLRC4_ENST00000402280.1_Missense_Mutation_p.R750W|NLRC4_ENST00000360906.5_Missense_Mutation_p.R750W|NLRC4_ENST00000342905.6_Intron	p.R750W			Q9NPP4	NLRC4_HUMAN			5	2736	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		750					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.2248C>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890014	0.33348	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.12774	2.65;2.65;2.65	3.16	3.16	0.36331	.	0.736937	0.11138	N	0.595589	T	0.13030	0.0316	L	0.44542	1.39	0.22489	N	0.999055	D	0.64830	0.994	B	0.41299	0.353	T	0.14952	-1.0454	9	0.66056	D	0.02	-2.4537	10.1027	0.42515	0.0:0.0:0.7988:0.2011	.	750	Q9NPP4	NLRC4_HUMAN	W	750	ENSP00000354159:R750W;ENSP00000385428:R750W;ENSP00000385090:R750W	ENSP00000354159:R750W	R	-	1	2	NLRC4	32328189	0.001000	0.12720	0.024000	0.17045	0.018000	0.09664	0.309000	0.19332	2.087000	0.62958	0.537000	0.68136	CGG		0.393	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		5	286	0	0	0	1	0	5	286				
RHAG	6005	broad.mit.edu	37	6	49585874	49585874	+	Silent	SNP	C	C	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:49585874C>G	ENST00000371175.4	-	3	425	c.399G>C	c.(397-399)ctG>ctC	p.L133L	RHAG_ENST00000229810.7_Silent_p.L133L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	133					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TCGTTTTTCCCAGGACAGCTC	0.393																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(397-399)ctG>ctC		Rh-associated glycoprotein							91.0	90.0	90.0					6																	49585874		2203	4300	6503	SO:0001819	synonymous_variant	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49585874C>G		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.399G>C	6.37:g.49585874C>G						RHAG_ENST00000229810.7_Silent_p.L133L	p.L133L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			3	425	-	Lung NSC(77;0.0255)		133					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Silent	SNP	ENST00000371175.4	37	c.399G>C	CCDS4927.1																																																																																				0.393	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			3	36	0	0	0	1	0	3	36				
ARHGEF1	9138	broad.mit.edu	37	19	42396787	42396787	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:42396787C>T	ENST00000354532.3	+	7	629	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R161W|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R143W|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R176W|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R128W	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	161	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCGTTCCAAGCGGCTCATGGG	0.687																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(481-483)Cgg>Tgg		Rho guanine nucleotide exchange factor (GEF) 1							36.0	37.0	37.0					19																	42396787		2203	4300	6503	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42396787C>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.481C>T	19.37:g.42396787C>T	ENSP00000346532:p.Arg161Trp					ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R128W|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R176W|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R143W|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R161W	p.R161W			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	7	606	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	161			RGSL.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.481C>T	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337937	0.60963	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	4.32	2.1	0.27182	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.173821	0.34652	N	0.003781	D	0.91030	0.7178	M	0.67700	2.07	0.42139	D	0.991505	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;P;D;D	0.91635	0.979;0.983;0.887;0.984;0.999	D	0.89819	0.3987	10	0.87932	D	0	-10.1766	9.6148	0.39685	0.379:0.621:0.0:0.0	.	143;176;128;161;221	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	W	161;128;197;176;143	ENSP00000346532:R161W;ENSP00000344429:R128W;ENSP00000337261:R176W;ENSP00000367394:R143W	ENSP00000323044:R197W	R	+	1	2	ARHGEF1	47088627	0.827000	0.29292	1.000000	0.80357	0.776000	0.43924	0.241000	0.18065	0.361000	0.24292	0.306000	0.20318	CGG		0.687	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		4	62	0	0	0	1	0	4	62				
NOTCH1	4851	broad.mit.edu	37	9	139410452	139410452	+	Nonsense_Mutation	SNP	G	G	T	rs371634784		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:139410452G>T	ENST00000277541.6	-	10	1725	c.1650C>A	c.(1648-1650)taC>taA	p.Y550*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	550	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACACACAGGTGTAAGTGTTGG	0.632			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1648-1650)taC>taA		notch 1							42.0	48.0	46.0					9																	139410452		2044	4189	6233	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139410452G>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1650C>A	9.37:g.139410452G>T	ENSP00000277541:p.Tyr550*	HNSCC(8;0.001)					p.Y550*	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	10	1725	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	550			EGF-like 14; calcium-binding (Potential).		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.1650C>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	39	7.372948	0.98245	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.88	3.96	0.45880	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6621	0.56820	0.0823:0.0:0.9177:0.0	.	.	.	.	X	550	.	ENSP00000277541:Y550X	Y	-	3	2	NOTCH1	138530273	1.000000	0.71417	0.989000	0.46669	0.804000	0.45430	3.168000	0.50801	0.992000	0.38840	0.563000	0.77884	TAC		0.632	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	49	1	0	0.00198382	1	0.00202033	7	49				
SLC46A1	113235	broad.mit.edu	37	17	26731758	26731758	+	Silent	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:26731758C>A	ENST00000440501.1	-	2	1052	c.957G>T	c.(955-957)ctG>ctT	p.L319L	SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Silent_p.L319L|CTD-2350C19.2_ENST00000580714.1_RNA|CTD-2350C19.1_ENST00000583956.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	319					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	TCAGGGCCAGCAGGCTGGTGA	0.562																																						ENST00000440501.1																			0				lung(5)	5						c.(955-957)ctG>ctT		solute carrier family 46 (folate transporter), member 1	Folic Acid(DB00158)						53.0	59.0	57.0					17																	26731758		2052	4205	6257	SO:0001819	synonymous_variant	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26731758C>A	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.957G>T	17.37:g.26731758C>A						SLC46A1_ENST00000321666.5_Silent_p.L319L|SLC46A1_ENST00000584729.1_5'UTR	p.L319L	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	1052	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		319					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Silent	SNP	ENST00000440501.1	37	c.957G>T																																																																																					0.562	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		14	35	1	0	7.93312e-07	1	8.44165e-07	14	35				
OR2T2	401992	broad.mit.edu	37	1	248616186	248616186	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:248616186G>T	ENST00000342927.3	+	1	110	c.88G>T	c.(88-90)Gca>Tca	p.A30S		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTTCTCTTTGCAATAGTCTT	0.522																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(88-90)Gca>Tca		olfactory receptor, family 2, subfamily T, member 2							234.0	255.0	248.0					1																	248616186		2202	4300	6502	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616186G>T	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.88G>T	1.37:g.248616186G>T	ENSP00000343062:p.Ala30Ser						p.A30S	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	110	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		30					B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.88G>T	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	g	0.240	-1.014464	0.02095	.	.	ENSG00000196240	ENST00000342927	T	0.00441	7.41	2.94	0.721	0.18219	.	0.284575	0.25225	N	0.032212	T	0.00109	0.0003	N	0.01410	-0.885	0.09310	N	1	B	0.34372	0.451	B	0.30179	0.112	T	0.22871	-1.0204	10	0.06236	T	0.91	.	3.7704	0.08639	0.2644:0.0:0.5381:0.1975	.	30	Q6IF00	OR2T2_HUMAN	S	30	ENSP00000343062:A30S	ENSP00000343062:A30S	A	+	1	0	OR2T2	246682809	0.000000	0.05858	0.181000	0.23098	0.403000	0.30841	-0.418000	0.07080	0.419000	0.25927	0.298000	0.19748	GCA		0.522	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		33	246	1	0	3.57733e-08	1	3.85608e-08	33	246				
SAFB	6294	broad.mit.edu	37	19	5664419	5664419	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:5664419C>G	ENST00000292123.5	+	17	2410	c.2303C>G	c.(2302-2304)tCa>tGa	p.S768*	SAFB_ENST00000538656.1_Nonsense_Mutation_p.S610*|SAFB_ENST00000592224.1_Nonsense_Mutation_p.S767*|SAFB_ENST00000588852.1_Nonsense_Mutation_p.S768*|SAFB_ENST00000454510.1_Nonsense_Mutation_p.S699*|SAFB_ENST00000433404.1_Nonsense_Mutation_p.S598*	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	768	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AGAGAAGGTTCAAGGTCAATG	0.458																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(2302-2304)tCa>tGa		scaffold attachment factor B							91.0	89.0	89.0					19																	5664419		2203	4300	6503	SO:0001587	stop_gained	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5664419C>G	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2303C>G	19.37:g.5664419C>G	ENSP00000292123:p.Ser768*					SAFB_ENST00000592224.1_Nonsense_Mutation_p.S767*|SAFB_ENST00000538656.1_Nonsense_Mutation_p.S610*|SAFB_ENST00000454510.1_Nonsense_Mutation_p.S699*|SAFB_ENST00000588852.1_Nonsense_Mutation_p.S768*|SAFB_ENST00000433404.1_Nonsense_Mutation_p.S598*	p.S768*	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	17	2410	+			768			Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Nonsense_Mutation	SNP	ENST00000292123.5	37	c.2303C>G	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	C	39	7.547854	0.98352	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	.	.	.	5.04	5.04	0.67666	.	0.000000	0.40908	D	0.000983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-8.8306	16.5634	0.84572	0.0:1.0:0.0:0.0	.	.	.	.	X	699;663;598;768;610	.	ENSP00000292123:S768X	S	+	2	0	SAFB	5615419	0.999000	0.42202	0.964000	0.40570	0.986000	0.74619	5.160000	0.64929	2.492000	0.84095	0.655000	0.94253	TCA		0.458	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			14	46	0	0	0	1	0	14	46				
GK	2710	broad.mit.edu	37	X	30714164	30714164	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:30714164G>T	ENST00000378943.3	+	7	737	c.558G>T	c.(556-558)ttG>ttT	p.L186F	GK_ENST00000378946.3_Missense_Mutation_p.L186F|GK_ENST00000427190.1_5'UTR|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378945.3_Missense_Mutation_p.L186F	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	186					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						CCTAGAGTTTGACAGGAGGAG	0.353																																						ENST00000378943.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.(556-558)ttG>ttT		glycerol kinase							75.0	65.0	69.0					X																	30714164		2202	4300	6502	SO:0001583	missense	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30714164G>T	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.558G>T	X.37:g.30714164G>T	ENSP00000368226:p.Leu186Phe					GK_ENST00000378946.3_Missense_Mutation_p.L186F|GK_ENST00000427190.1_5'UTR|GK_ENST00000378945.3_Missense_Mutation_p.L186F	p.L186F	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN			7	737	+			186					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378943.3	37	c.558G>T	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067542	0.76301	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000451432;ENST00000425166	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.04	2.26	0.28386	.	0.067561	0.64402	D	0.000009	T	0.80949	0.4722	M	0.88241	2.94	0.80722	D	1	P;P;P;P	0.50272	0.933;0.917;0.917;0.933	P;P;P;P	0.62649	0.905;0.771;0.771;0.853	T	0.80065	-0.1538	10	0.59425	D	0.04	.	10.256	0.43397	0.2224:0.0:0.7776:0.0	.	23;186;186;186	E7EQC0;P32189-2;P32189-1;A6NJP5	.;.;.;.	F	186;186;186;186;23;105	ENSP00000368229:L186F;ENSP00000368226:L186F;ENSP00000368228:L186F;ENSP00000404682:L105F	ENSP00000368226:L186F	L	+	3	2	GK	30624085	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	4.830000	0.62745	0.107000	0.17824	0.506000	0.49869	TTG		0.353	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		8	25	1	0	0.00307968	1	0.00311724	8	25				
TTLL4	9654	broad.mit.edu	37	2	219603352	219603352	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:219603352C>T	ENST00000392102.1	+	3	1293	c.953C>T	c.(952-954)tCc>tTc	p.S318F	TTLL4_ENST00000442769.1_Missense_Mutation_p.S318F|TTLL4_ENST00000457313.1_Missense_Mutation_p.S153F|TTLL4_ENST00000258398.4_Missense_Mutation_p.S318F	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	318					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GAGCCACTTTCCTGTGCTCTG	0.522																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(952-954)tCc>tTc		tubulin tyrosine ligase-like family, member 4							112.0	107.0	108.0					2																	219603352		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219603352C>T		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.953C>T	2.37:g.219603352C>T	ENSP00000375951:p.Ser318Phe					TTLL4_ENST00000457313.1_Missense_Mutation_p.S153F|TTLL4_ENST00000442769.1_Missense_Mutation_p.S318F|TTLL4_ENST00000258398.4_Missense_Mutation_p.S318F	p.S318F	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	1293	+		Renal(207;0.0915)	318					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.953C>T	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	0.204	-1.042637	0.01997	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.04119	3.89;4.13;3.7;4.13	4.42	0.488	0.16848	.	1.002110	0.08047	N	0.996089	T	0.03136	0.0092	N	0.14661	0.345	0.09310	N	1	B;B;B	0.26318	0.0;0.146;0.0	B;B;B	0.22753	0.001;0.041;0.0	T	0.45848	-0.9233	10	0.51188	T	0.08	.	4.8912	0.13728	0.0:0.5014:0.1482:0.3504	.	153;318;318	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	F	153;318;318;318	ENSP00000393332:S153F;ENSP00000375951:S318F;ENSP00000396555:S318F;ENSP00000258398:S318F	ENSP00000258398:S318F	S	+	2	0	TTLL4	219311596	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.173000	0.16724	-0.095000	0.12351	0.563000	0.77884	TCC		0.522	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		31	83	0	0	0	1	0	31	83				
CYTH3	9265	broad.mit.edu	37	7	6210871	6210871	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:6210871C>T	ENST00000350796.3	-	7	660	c.524G>A	c.(523-525)cGc>cAc	p.R175H	CYTH3_ENST00000396741.2_Missense_Mutation_p.R90H|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	175	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CAGGCAGTAGCGAGAAGCGAA	0.622																																						ENST00000350796.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						c.(523-525)cGc>cAc		cytohesin 3							108.0	110.0	109.0					7																	6210871		2203	4300	6503	SO:0001583	missense	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6210871C>T	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.524G>A	7.37:g.6210871C>T	ENSP00000297044:p.Arg175His					CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.R90H	p.R175H	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN			7	660	-			175			SEC7.		A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	c.524G>A	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827448	0.71143	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.57907	0.37;0.37	5.25	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	M	0.67625	2.065	0.80722	D	1	B;P	0.40834	0.414;0.73	B;B	0.25614	0.051;0.062	T	0.51787	-0.8661	10	0.46703	T	0.11	.	15.0081	0.71527	0.1436:0.8564:0.0:0.0	.	90;175	B7Z2V9;O43739-2	.;.	H	175;90	ENSP00000297044:R175H;ENSP00000379967:R90H	ENSP00000297044:R175H	R	-	2	0	CYTH3	6177396	1.000000	0.71417	0.955000	0.39395	0.803000	0.45373	7.639000	0.83342	1.174000	0.42811	0.655000	0.94253	CGC		0.622	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		31	136	0	0	0	1	0	31	136				
DIRAS3	9077	broad.mit.edu	37	1	68512804	68512804	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:68512804G>A	ENST00000370981.1	-	4	813	c.177C>T	c.(175-177)agC>agT	p.S59S	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.S59S|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	59					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGAAGTTGCCGCTCGCCCACT	0.587																																						ENST00000370981.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(175-177)agC>agT		DIRAS family, GTP-binding RAS-like 3							113.0	114.0	114.0					1																	68512804		2203	4300	6503	SO:0001819	synonymous_variant	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512804G>A	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.177C>T	1.37:g.68512804G>A						DIRAS3_ENST00000395201.1_Silent_p.S59S|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA	p.S59S			O95661	DIRA3_HUMAN			4	813	-			59					B3KMP3	Silent	SNP	ENST00000370981.1	37	c.177C>T	CCDS641.1																																																																																				0.587	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		4	207	0	0	0	1	0	4	207				
BOD1L1	259282	broad.mit.edu	37	4	13604617	13604617	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:13604617G>A	ENST00000040738.5	-	10	4042	c.3907C>T	c.(3907-3909)Ctg>Ttg	p.L1303L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1303						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTGTCAAACAGAGGAATTACA	0.463																																						ENST00000040738.5																			0											c.(3907-3909)Ctg>Ttg		biorientation of chromosomes in cell division 1-like 1							123.0	108.0	113.0					4																	13604617		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13604617G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3907C>T	4.37:g.13604617G>A							p.L1303L	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	4042	-			1303					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.3907C>T	CCDS3411.2																																																																																				0.463	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		16	37	0	0	0	1	0	16	37				
RYR2	6262	broad.mit.edu	37	1	237829886	237829886	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:237829886G>A	ENST00000366574.2	+	57	8828	c.8511G>A	c.(8509-8511)ctG>ctA	p.L2837L	RYR2_ENST00000360064.6_Silent_p.L2835L|RYR2_ENST00000542537.1_Silent_p.L2821L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2837	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTAGAGACCTGCATGTAAGTA	0.363																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(8509-8511)ctG>ctA		ryanodine receptor 2 (cardiac)							49.0	44.0	46.0					1																	237829886		1854	4089	5943	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237829886G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8511G>A	1.37:g.237829886G>A						RYR2_ENST00000542537.1_Silent_p.L2821L|RYR2_ENST00000360064.6_Silent_p.L2835L	p.L2837L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		57	8828	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2837			4 X approximate repeats.|Modulator (Potential).		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.8511G>A	CCDS55691.1																																																																																				0.363	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	15	0	0	0	1	0	9	15				
GPR116	221395	broad.mit.edu	37	6	46826415	46826415	+	Silent	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:46826415C>T	ENST00000283296.7	-	17	3513	c.3225G>A	c.(3223-3225)caG>caA	p.Q1075Q	GPR116_ENST00000265417.7_Silent_p.Q1075Q|GPR116_ENST00000456426.2_Silent_p.Q933Q|GPR116_ENST00000545669.1_Silent_p.Q504Q|GPR116_ENST00000362015.4_Silent_p.Q1075Q	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1075				Q -> R (in Ref. 5; AL832125). {ECO:0000305}.	energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGCGATTGTCCTGGATGGCAG	0.537																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3223-3225)caG>caA		G protein-coupled receptor 116							66.0	63.0	64.0					6																	46826415		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826415C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3225G>A	6.37:g.46826415C>T						GPR116_ENST00000265417.7_Silent_p.Q1075Q|GPR116_ENST00000545669.1_Silent_p.Q504Q|GPR116_ENST00000362015.4_Silent_p.Q1075Q|GPR116_ENST00000456426.2_Silent_p.Q933Q	p.Q1075Q	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3513	-			1075	Q -> R (in Ref. 5; AL832125).				O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.3225G>A	CCDS4919.1																																																																																				0.537	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		27	53	0	0	0	1	0	27	53				
KAT2A	2648	broad.mit.edu	37	17	40267773	40267773	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:40267773C>T	ENST00000225916.5	-	12	1896	c.1843G>A	c.(1843-1845)Gac>Aac	p.D615N		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	615	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCGTACTCGTCGGCGTAGGTG	0.572																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1843-1845)Gac>Aac		K(lysine) acetyltransferase 2A							217.0	197.0	204.0					17																	40267773		2203	4300	6503	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40267773C>T	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1843G>A	17.37:g.40267773C>T	ENSP00000225916:p.Asp615Asn						p.D615N	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			12	1896	-			615			N-acetyltransferase.		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.1843G>A	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518911	0.96416	.	.	ENSG00000108773	ENST00000225916	T	0.22539	1.95	5.32	5.32	0.75619	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.64356	-0.6427	10	0.87932	D	0	-27.5065	18.5847	0.91185	0.0:1.0:0.0:0.0	.	615	Q92830	KAT2A_HUMAN	N	615	ENSP00000225916:D615N	ENSP00000225916:D615N	D	-	1	0	KAT2A	37521299	1.000000	0.71417	0.890000	0.34922	0.892000	0.51952	7.800000	0.85949	2.488000	0.83962	0.462000	0.41574	GAC		0.572	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		25	98	0	0	0	1	0	25	98				
PTPRB	5787	broad.mit.edu	37	12	70963656	70963656	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:70963656T>A	ENST00000261266.5	-	12	2808	c.2779A>T	c.(2779-2781)Aac>Tac	p.N927Y	PTPRB_ENST00000334414.6_Missense_Mutation_p.N1145Y|PTPRB_ENST00000538708.1_Missense_Mutation_p.N927Y|PTPRB_ENST00000451516.2_Missense_Mutation_p.N837Y|PTPRB_ENST00000551525.1_Missense_Mutation_p.N1144Y|PTPRB_ENST00000550358.1_Missense_Mutation_p.N1057Y|PTPRB_ENST00000550857.1_Missense_Mutation_p.N837Y	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	927	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGAGTCCAGTTCACCGTCAGG	0.438																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(3433-3435)Aac>Tac		protein tyrosine phosphatase, receptor type, B							71.0	70.0	70.0					12																	70963656		1966	4159	6125	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70963656T>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2779A>T	12.37:g.70963656T>A	ENSP00000261266:p.Asn927Tyr					PTPRB_ENST00000551525.1_Missense_Mutation_p.N1144Y|PTPRB_ENST00000550857.1_Missense_Mutation_p.N837Y|PTPRB_ENST00000261266.5_Missense_Mutation_p.N927Y|PTPRB_ENST00000550358.1_Missense_Mutation_p.N1057Y|PTPRB_ENST00000451516.2_Missense_Mutation_p.N837Y|PTPRB_ENST00000538708.1_Missense_Mutation_p.N927Y	p.N1145Y	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		14	3477	-	Renal(347;0.236)		927			Fibronectin type-III 13.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.3433A>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077203	0.76415	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.3	5.3	0.74995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.381477	0.33732	N	0.004616	T	0.67505	0.2900	M	0.63428	1.95	0.38532	D	0.948995	D;P;P;P;P;P;D	0.57571	0.971;0.942;0.734;0.878;0.917;0.845;0.98	P;P;P;P;P;P;P	0.61592	0.789;0.847;0.808;0.785;0.694;0.797;0.891	T	0.73248	-0.4043	10	0.66056	D	0.02	.	15.5412	0.76048	0.0:0.0:0.0:1.0	.	837;927;1024;1144;1145;927;1057	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	Y	1145;837;1057;927;837;927;1144;1024	ENSP00000334928:N1145Y;ENSP00000393028:N837Y;ENSP00000448058:N1057Y;ENSP00000438927:N927Y;ENSP00000447302:N837Y;ENSP00000261266:N927Y;ENSP00000448349:N1144Y;ENSP00000446982:N1024Y	ENSP00000261266:N927Y	N	-	1	0	PTPRB	69249923	1.000000	0.71417	0.919000	0.36401	0.694000	0.40290	3.658000	0.54482	2.129000	0.65627	0.445000	0.29226	AAC		0.438	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			10	45	0	0	0	1	0	10	45				
LAMA4	3910	broad.mit.edu	37	6	112486365	112486365	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:112486365T>C	ENST00000230538.7	-	13	2062	c.1665A>G	c.(1663-1665)atA>atG	p.I555M	RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.I548M|LAMA4_ENST00000424408.2_Missense_Mutation_p.I548M|LAMA4_ENST00000522006.1_Missense_Mutation_p.I548M	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	555	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCTTACCTTTATTATATCAT	0.418																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1663-1665)atA>atG		laminin, alpha 4							135.0	126.0	129.0					6																	112486365		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112486365T>C		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1665A>G	6.37:g.112486365T>C	ENSP00000230538:p.Ile555Met					RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.I548M|LAMA4_ENST00000389463.4_Missense_Mutation_p.I548M|LAMA4_ENST00000424408.2_Missense_Mutation_p.I548M	p.I555M	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	13	2062	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	555			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1665A>G	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.655118	0.47467	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.14516	2.52;2.5;2.5;2.5	5.04	3.82	0.43975	.	0.415949	0.28104	N	0.016590	T	0.09818	0.0241	L	0.47716	1.5	0.80722	D	1	P;P	0.43542	0.81;0.773	P;P	0.49226	0.603;0.468	T	0.02751	-1.1115	10	0.48119	T	0.1	.	8.1802	0.31307	0.1769:0.0:0.0:0.8231	.	555;548	Q16363;Q16363-2	LAMA4_HUMAN;.	M	555;548;548;548	ENSP00000230538:I555M;ENSP00000429488:I548M;ENSP00000374114:I548M;ENSP00000416470:I548M	ENSP00000230538:I555M	I	-	3	3	LAMA4	112593058	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	0.549000	0.23329	1.896000	0.54893	0.397000	0.26171	ATA		0.418	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		20	44	0	0	0	1	0	20	44				
PCNT	5116	broad.mit.edu	37	21	47817943	47817943	+	Missense_Mutation	SNP	C	C	T	rs371945746		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr21:47817943C>T	ENST00000359568.5	+	23	4569	c.4462C>T	c.(4462-4464)Cgg>Tgg	p.R1488W	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1488					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGCAGCCGAGCGGGAGCACGA	0.706																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(4462-4464)Cgg>Tgg		pericentrin		C	TRP/ARG	0,4368		0,0,2184	16.0	16.0	16.0		4462	-2.0	0.9	21		16	1,8573		0,1,4286	no	missense	PCNT	NM_006031.5	101	0,1,6470	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	1488/3337	47817943	1,12941	2184	4287	6471	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47817943C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4462C>T	21.37:g.47817943C>T	ENSP00000352572:p.Arg1488Trp					PCNT_ENST00000480896.1_3'UTR	p.R1488W	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			23	4569	+	Breast(49;0.112)		1488					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.4462C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418520	0.42918	0.0	1.17E-4	ENSG00000160299	ENST00000359568	T	0.74315	-0.83	4.96	-1.96	0.07525	.	0.000000	0.31199	N	0.008070	D	0.84951	0.5586	M	0.84326	2.69	0.31768	N	0.63243	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86476	0.1788	10	0.62326	D	0.03	.	15.8976	0.79346	0.6907:0.3093:0.0:0.0	.	1370;1488	O95613-2;O95613	.;PCNT_HUMAN	W	1488	ENSP00000352572:R1488W	ENSP00000352572:R1488W	R	+	1	2	PCNT	46642371	0.145000	0.22656	0.950000	0.38849	0.086000	0.17979	-0.242000	0.08928	-0.236000	0.09753	-1.383000	0.01170	CGG		0.706	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		3	7	0	0	0	1	0	3	7				
TENM1	10178	broad.mit.edu	37	X	123514615	123514615	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:123514615G>A	ENST00000371130.3	-	31	8012	c.7949C>T	c.(7948-7950)gCc>gTc	p.A2650V	TENM1_ENST00000422452.2_Missense_Mutation_p.A2657V|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2650					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCGCTGTCTGGCAATCTCCAA	0.542																																						ENST00000422452.2																			0											c.(7969-7971)gCc>gTc		teneurin transmembrane protein 1							126.0	113.0	117.0					X																	123514615		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123514615G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7949C>T	X.37:g.123514615G>A	ENSP00000360171:p.Ala2650Val					TENM1_ENST00000371130.3_Missense_Mutation_p.A2650V|STAG2_ENST00000469481.1_Intron	p.A2657V	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	8033	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7970C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613084	0.66672	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.91686	-2.89;-2.85	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.96194	0.8759	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.87578	0.985;0.994;0.998	D	0.96484	0.9358	10	0.87932	D	0	.	18.9144	0.92499	0.0:0.0:1.0:0.0	.	2656;2657;2650	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	V	2650;2657	ENSP00000360171:A2650V;ENSP00000403954:A2657V	ENSP00000360171:A2650V	A	-	2	0	ODZ1	123342296	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	9.869000	0.99810	2.414000	0.81942	0.538000	0.68166	GCC		0.542	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		5	195	0	0	0	1	0	5	195				
USP33	23032	broad.mit.edu	37	1	78200091	78200091	+	Silent	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:78200091A>G	ENST00000370793.1	-	8	904	c.558T>C	c.(556-558)ggT>ggC	p.G186G	USP33_ENST00000370794.3_Silent_p.G155G|USP33_ENST00000370792.3_Silent_p.G186G|USP33_ENST00000357428.1_Silent_p.G186G	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	186	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TATTTTTCAAACCTGTAAGAC	0.264																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(556-558)ggT>ggC		ubiquitin specific peptidase 33							29.0	29.0	29.0					1																	78200091		2200	4285	6485	SO:0001819	synonymous_variant	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78200091A>G	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.558T>C	1.37:g.78200091A>G						USP33_ENST00000370794.3_Silent_p.G155G|USP33_ENST00000357428.1_Silent_p.G186G|USP33_ENST00000370792.3_Silent_p.G186G	p.G186G	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			8	904	-			186					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Silent	SNP	ENST00000370793.1	37	c.558T>C	CCDS678.1																																																																																				0.264	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		3	8	0	0	0	1	0	3	8				
SVIL	6840	broad.mit.edu	37	10	29751238	29751238	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr10:29751238G>A	ENST00000355867.4	-	36	7122	c.6370C>T	c.(6370-6372)Cac>Tac	p.H2124Y	SVIL_ENST00000375398.2_Missense_Mutation_p.H2124Y|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.H1038Y|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.H1698Y|PTCHD3P1_ENST00000413405.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2124					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCCTCTCTGTGCTCCCAGCTG	0.498																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(6370-6372)Cac>Tac		supervillin							145.0	137.0	140.0					10																	29751238		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29751238G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6370C>T	10.37:g.29751238G>A	ENSP00000348128:p.His2124Tyr					SVIL_ENST00000355867.4_Missense_Mutation_p.H2124Y|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.H1038Y|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.H1698Y	p.H2124Y			O95425	SVIL_HUMAN			38	6819	-		Breast(68;0.103)	2124					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.6370C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818529	0.71028	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.14144	2.65;2.67;2.67;2.53	4.68	3.77	0.43336	.	0.046444	0.85682	N	0.000000	T	0.27241	0.0668	L	0.48362	1.52	0.80722	D	1	D;B;B	0.64830	0.994;0.232;0.149	D;B;B	0.66847	0.947;0.241;0.076	T	0.00923	-1.1513	10	0.46703	T	0.11	-15.0932	12.435	0.55595	0.0807:0.0:0.9193:0.0	.	1038;1698;2124	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	Y	1698;2124;2124;1038	ENSP00000364549:H1698Y;ENSP00000364547:H2124Y;ENSP00000348128:H2124Y;ENSP00000445472:H1038Y	ENSP00000348128:H2124Y	H	-	1	0	SVIL	29791244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.334000	0.72944	1.175000	0.42826	0.655000	0.94253	CAC		0.498	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			28	81	0	0	0	1	0	28	81				
EOGT	285203	broad.mit.edu	37	3	69053575	69053575	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:69053575G>A	ENST00000383701.3	-	8	1316	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	EOGT_ENST00000295571.5_Missense_Mutation_p.R192C|EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000540764.1_Missense_Mutation_p.R91C	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	192					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										GTCAATGTACGGATGTCAAGT	0.388																																						ENST00000383701.3																			0											c.(574-576)Cgt>Tgt		EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							121.0	113.0	116.0					3																	69053575		2203	4300	6503	SO:0001583	missense	285203							g.chr3:69053575G>A	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.574C>T	3.37:g.69053575G>A	ENSP00000373206:p.Arg192Cys					EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000540764.1_Missense_Mutation_p.R91C|EOGT_ENST00000295571.5_Missense_Mutation_p.R192C	p.R192C	NM_001278689.1	NP_001265618.1					8	1316	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	ENST00000383701.3	37	c.574C>T		.	.	.	.	.	.	.	.	.	.	G	9.268	1.044942	0.19748	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540764	T;T;T	0.07800	3.16;3.16;3.16	5.71	4.79	0.61399	.	1.297770	0.04740	N	0.422736	T	0.10723	0.0262	L	0.34521	1.04	0.20307	N	0.999919	P;P	0.42078	0.752;0.77	B;B	0.39152	0.28;0.292	T	0.34477	-0.9827	10	0.66056	D	0.02	.	13.281	0.60214	0.0:0.1028:0.7361:0.1611	.	192;192	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	C	192;192;91	ENSP00000373206:R192C;ENSP00000295571:R192C;ENSP00000443780:R91C	ENSP00000295571:R192C	R	-	1	0	C3orf64	69136265	0.002000	0.14202	0.017000	0.16124	0.063000	0.16089	1.359000	0.34113	2.854000	0.98071	0.655000	0.94253	CGT		0.388	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		3	42	0	0	0	1	0	3	42				
ABCA3	21	broad.mit.edu	37	16	2334301	2334301	+	Missense_Mutation	SNP	C	C	T	rs141745439	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:2334301C>T	ENST00000301732.5	-	25	4541	c.3841G>A	c.(3841-3843)Gcc>Acc	p.A1281T	ABCA3_ENST00000382381.3_Missense_Mutation_p.A1223T	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1281					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CAGTAGTGGGCGGCGACCTCG	0.627																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(3841-3843)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 3		T	THR/ALA	8,4388	14.3+/-33.2	0,8,2190	68.0	66.0	67.0		3841	-0.2	0.0	16	dbSNP_134	67	0,8600		0,0,4300	yes	missense	ABCA3	NM_001089.2	58	0,8,6490	TT,TC,CC		0.0,0.182,0.0616	benign	1281/1705	2334301	8,12988	2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2334301C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3841G>A	16.37:g.2334301C>T	ENSP00000301732:p.Ala1281Thr					ABCA3_ENST00000382381.3_Missense_Mutation_p.A1223T	p.A1281T	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			25	4541	-		Ovarian(90;0.17)	1281					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.3841G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	c	3.479	-0.106335	0.06924	0.00182	0.0	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90324	-2.65	5.52	-0.224	0.13115	.	0.540708	0.20851	N	0.084530	T	0.81064	0.4745	L	0.39898	1.24	0.19775	N	0.999956	B;B	0.14012	0.009;0.003	B;B	0.10450	0.005;0.005	T	0.62101	-0.6925	10	0.11485	T	0.65	.	5.3659	0.16113	0.1273:0.4749:0.0:0.3979	.	1285;1281	Q4LE27;Q99758	.;ABCA3_HUMAN	T	1281;1285	ENSP00000301732:A1281T	ENSP00000301732:A1281T	A	-	1	0	ABCA3	2274302	0.014000	0.17966	0.028000	0.17463	0.464000	0.32679	0.060000	0.14342	-0.271000	0.09272	-0.119000	0.15052	GCC		0.627	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		17	50	0	0	0	1	0	17	50				
LAMB2	3913	broad.mit.edu	37	3	49160788	49160788	+	Missense_Mutation	SNP	C	C	T	rs144783830		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:49160788C>T	ENST00000418109.1	-	27	4165	c.4001G>A	c.(4000-4002)cGg>cAg	p.R1334Q	LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.R1334Q	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1334	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGGGCATGCCGGATGCTGTC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		21829	0.001		0.0	False		,,,				2504	0.0					ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4000-4002)cGg>cAg		laminin, beta 2 (laminin S)							108.0	100.0	103.0					3																	49160788		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49160788C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4001G>A	3.37:g.49160788C>T	ENSP00000388325:p.Arg1334Gln					LAMB2_ENST00000305544.4_Missense_Mutation_p.R1334Q	p.R1334Q	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	27	4165	-			1334			Domain II.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.4001G>A	CCDS2789.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.642	0.486905	0.12641	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.33865	1.39;1.39	5.78	1.84	0.25277	.	0.389717	0.29002	N	0.013452	T	0.24122	0.0584	L	0.47716	1.5	0.47037	D	0.999294	B	0.28801	0.223	B	0.11329	0.006	T	0.05178	-1.0901	10	0.40728	T	0.16	.	4.8938	0.13740	0.2577:0.5416:0.0:0.2006	.	1334	P55268	LAMB2_HUMAN	Q	1334;1334;101	ENSP00000388325:R1334Q;ENSP00000307156:R1334Q	ENSP00000307156:R1334Q	R	-	2	0	LAMB2	49135792	0.696000	0.27757	0.985000	0.45067	0.433000	0.31745	1.060000	0.30530	0.363000	0.24346	-0.137000	0.14449	CGG		0.577	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		22	93	0	0	0	1	0	22	93				
ZNF692	55657	broad.mit.edu	37	1	249151461	249151461	+	Silent	SNP	G	G	A	rs375885347		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:249151461G>A	ENST00000306601.4	-	4	613	c.447C>T	c.(445-447)tcC>tcT	p.S149S	ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000427146.1_Silent_p.S149S|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000366471.3_Silent_p.S149S|ZNF692_ENST00000366469.5_Silent_p.S149S|ZNF692_ENST00000451251.1_Silent_p.S154S	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCGTGGCCTCGGAACACCAAC	0.537																																						ENST00000451251.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(460-462)tcC>tcT		zinc finger protein 692		G	,,	0,4406		0,0,2203	87.0	89.0	89.0		462,447,447	-3.4	0.0	1		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF692	NM_001136036.2,NM_001193328.1,NM_017865.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	154/525,149/475,149/520	249151461	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249151461G>A	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.447C>T	1.37:g.249151461G>A						ZNF692_ENST00000427146.1_Silent_p.S149S|ZNF692_ENST00000366469.5_Silent_p.S149S|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000306601.4_Silent_p.S149S|ZNF692_ENST00000366471.3_Silent_p.S149S	p.S154S	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	807	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	149					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Silent	SNP	ENST00000306601.4	37	c.462C>T	CCDS31127.1																																																																																				0.537	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		24	68	0	0	0	1	0	24	68				
C15orf32	145858	broad.mit.edu	37	15	93043602	93043602	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:93043602G>T	ENST00000333334.2	+	3	1004	c.509G>T	c.(508-510)aGa>aTa	p.R170I	C15orf32_ENST00000556865.1_3'UTR	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	170										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CATTTAATAAGATACAGAAAC	0.453																																						ENST00000333334.2																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12						c.(508-510)aGa>aTa		chromosome 15 open reading frame 32							165.0	160.0	161.0					15																	93043602		2198	4298	6496	SO:0001583	missense	145858							g.chr15:93043602G>T		CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.509G>T	15.37:g.93043602G>T	ENSP00000330267:p.Arg170Ile					C15orf32_ENST00000556865.1_3'UTR	p.R170I	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)		3	1004	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		170					C5HTZ8|Q96M45	Missense_Mutation	SNP	ENST00000333334.2	37	c.509G>T	CCDS10373.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534037	0.45073	.	.	ENSG00000183643	ENST00000333334	T	0.56103	0.48	4.45	3.53	0.40419	.	.	.	.	.	T	0.54062	0.1835	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.59506	-0.7442	9	0.87932	D	0	.	11.3985	0.49856	0.0881:0.0:0.9119:0.0	.	170	Q32M92	CO032_HUMAN	I	170	ENSP00000330267:R170I	ENSP00000330267:R170I	R	+	2	0	C15orf32	90844606	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.153000	0.50685	1.092000	0.41356	0.491000	0.48974	AGA		0.453	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313527.2	NM_153040		18	115	1	0	7.45023e-12	1	8.08325e-12	18	115				
CHL1	10752	broad.mit.edu	37	3	402045	402045	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:402045A>G	ENST00000256509.2	+	12	1886	c.1244A>G	c.(1243-1245)tAc>tGc	p.Y415C	CHL1_ENST00000397491.2_Missense_Mutation_p.Y399C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACTGCTGTGTACCAGTGTGAA	0.428																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(1243-1245)tAc>tGc		cell adhesion molecule L1-like							244.0	224.0	231.0					3																	402045		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:402045A>G	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1244A>G	3.37:g.402045A>G	ENSP00000256509:p.Tyr415Cys					CHL1_ENST00000397491.2_Missense_Mutation_p.Y399C	p.Y415C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	12	1886	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	399			Ig-like C2-type 4.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1244A>G	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141265	0.57044	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	D;D	0.95554	-3.74;-3.74	5.16	3.98	0.46160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.140558	0.49916	D	0.000139	D	0.98388	0.9464	H	0.97962	4.115	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.87578	0.998;0.998;0.967	D	0.97817	1.0254	10	0.87932	D	0	.	9.4372	0.38646	0.8236:0.0:0.0:0.1764	.	399;399;415	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	C	415;399	ENSP00000256509:Y415C;ENSP00000380628:Y399C	ENSP00000256509:Y415C	Y	+	2	0	CHL1	377045	1.000000	0.71417	0.998000	0.56505	0.764000	0.43329	3.561000	0.53770	0.876000	0.35872	0.533000	0.62120	TAC		0.428	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		31	95	0	0	0	1	0	31	95				
UBQLN3	50613	broad.mit.edu	37	11	5530115	5530115	+	Missense_Mutation	SNP	C	C	T	rs370344868		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:5530115C>T	ENST00000311659.4	-	2	821	c.674G>A	c.(673-675)cGt>cAt	p.R225H	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	225										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAGGGTTACGTAAAAACTC	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21614	0.0		0.0	False		,,,				2504	0.0				Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(673-675)cGt>cAt		ubiquilin 3							89.0	85.0	86.0					11																	5530115		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530115C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.674G>A	11.37:g.5530115C>T	ENSP00000347997:p.Arg225His					HBG2_ENST00000380259.2_Intron	p.R225H	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	821	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	225					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.674G>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127322	0.56721	.	.	ENSG00000175520	ENST00000311659	T	0.51325	0.71	5.53	4.63	0.57726	Heat shock chaperonin-binding (1);	0.000000	0.46145	D	0.000312	T	0.55465	0.1922	M	0.93016	3.37	0.48452	D	0.99965	B	0.33135	0.399	B	0.26693	0.072	T	0.64672	-0.6352	10	0.87932	D	0	-38.4648	12.2709	0.54706	0.0:0.9173:0.0:0.0827	.	225	Q9H347	UBQL3_HUMAN	H	225	ENSP00000347997:R225H	ENSP00000347997:R225H	R	-	2	0	UBQLN3	5486691	1.000000	0.71417	0.976000	0.42696	0.958000	0.62258	4.858000	0.62947	1.467000	0.48044	0.591000	0.81541	CGT		0.498	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		28	72	0	0	0	1	0	28	72				
NFE2L2	4780	broad.mit.edu	37	2	178098956	178098956	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:178098956A>G	ENST00000397062.3	-	2	643	c.89T>C	c.(88-90)cTt>cCt	p.L30P	NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14P|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14P|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14P|NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|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)	p.L30R(2)|p.L30H(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTTACTCCAAGATCTATATC	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		3	Substitution - Missense(3)	p.L30R(2)|p.L30H(1)	endometrium(2)|kidney(1)	central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(88-90)cTt>cCt		nuclear factor, erythroid 2-like 2							68.0	61.0	63.0					2																	178098956		1839	4101	5940	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098956A>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.89T>C	2.37:g.178098956A>G	ENSP00000380252:p.Leu30Pro	HNSCC(56;0.16)				NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14P|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14P|NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14P|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14P	p.L30P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	643	-			30					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.89T>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.726236	0.69074	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.69931	0.3166	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	T	0.76061	-0.3097	10	0.87932	D	0	.	16.098	0.81144	1.0:0.0:0.0:0.0	.	14;14;14;30	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	P	14;30;14;14;14;14;14	ENSP00000380253:L14P;ENSP00000380252:L30P;ENSP00000411575:L14P;ENSP00000391590:L14P;ENSP00000400073:L14P;ENSP00000412191:L14P;ENSP00000410015:L14P	ENSP00000380252:L30P	L	-	2	0	NFE2L2	177807202	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.210000	0.71456	0.460000	0.39030	CTT		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		8	24	0	0	0	1	0	8	24				
HNRNPM	4670	broad.mit.edu	37	19	8550642	8550642	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:8550642A>G	ENST00000325495.4	+	14	1371	c.1330A>G	c.(1330-1332)Atg>Gtg	p.M444V	HNRNPM_ENST00000348943.3_Missense_Mutation_p.M405V	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	444	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CATGGACCGCATGGGCTCCGT	0.706																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1213-1215)Atg>Gtg		heterogeneous nuclear ribonucleoprotein M							64.0	69.0	67.0					19																	8550642		2203	4298	6501	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550642A>G	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1330A>G	19.37:g.8550642A>G	ENSP00000325376:p.Met444Val					HNRNPM_ENST00000325495.4_Missense_Mutation_p.M444V	p.M405V	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1445	+			444			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1213A>G	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.051006	0.36181	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.14266	2.52;2.85	5.76	5.76	0.90799	.	0.115533	0.85682	D	0.000000	T	0.16085	0.0387	M	0.64567	1.98	0.37519	D	0.917471	B;B;B;B	0.23249	0.001;0.001;0.082;0.049	B;B;B;B	0.25140	0.002;0.0;0.058;0.024	T	0.07424	-1.0773	10	0.31617	T	0.26	.	10.1886	0.43013	0.8515:0.0:0.0:0.1485	.	284;444;405;329	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	V	444;405;329;1	ENSP00000325376:M444V;ENSP00000325732:M405V	ENSP00000325376:M444V	M	+	1	0	HNRNPM	8456642	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.893000	0.56243	2.199000	0.70637	0.402000	0.26972	ATG		0.706	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			48	160	0	0	0	1	0	48	160				
C2orf68	388969	broad.mit.edu	37	2	85836692	85836692	+	Missense_Mutation	SNP	G	G	A	rs369096715		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:85836692G>A	ENST00000306336.5	-	3	288	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	USP39_ENST00000459775.1_Intron|USP39_ENST00000450066.2_5'Flank|C2orf68_ENST00000478626.1_5'Flank	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	82										breast(1)|central_nervous_system(1)|endometrium(1)	3						TCTGGGTTGCGTGGGTGGGCA	0.532																																						ENST00000306336.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)	3						c.(244-246)Cgc>Tgc		chromosome 2 open reading frame 68		G	CYS/ARG	0,3906		0,0,1953	104.0	106.0	106.0		244	0.2	1.0	2		106	1,8305		0,1,4152	no	missense	C2orf68	NM_001013649.3	180	0,1,6105	AA,AG,GG		0.012,0.0,0.0082	benign	82/167	85836692	1,12211	1953	4153	6106	SO:0001583	missense	388969							g.chr2:85836692G>A		CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.244C>T	2.37:g.85836692G>A	ENSP00000304410:p.Arg82Cys					USP39_ENST00000459775.1_Intron	p.R82C	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN			3	288	-			82					B4DT10|Q4G0J7|Q6ZVA6	Missense_Mutation	SNP	ENST00000306336.5	37	c.244C>T	CCDS42704.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870351	0.33069	0.0	1.2E-4	ENSG00000168887	ENST00000306336	.	.	.	5.15	0.166	0.14999	.	5.312080	0.00357	N	0.000028	T	0.20820	0.0501	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.43147	-0.9409	9	0.45353	T	0.12	0.696	0.5754	0.00702	0.2098:0.3332:0.2054:0.2516	.	82	Q2NKX9	CB068_HUMAN	C	82	.	ENSP00000304410:R82C	R	-	1	0	C2orf68	85690203	0.326000	0.24669	0.998000	0.56505	0.975000	0.68041	0.327000	0.19663	0.170000	0.19704	-0.271000	0.10264	CGC		0.532	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329451.1	NM_001013649		49	145	0	0	0	1	0	49	145				
FAM86B3P	286042	broad.mit.edu	37	8	8095990	8095990	+	RNA	SNP	C	C	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr8:8095990C>G	ENST00000310542.3	+	0	0				ALG1L13P_ENST00000523017.1_RNA					family with sequence similarity 86, member B3, pseudogene																		CCAGGAGCCCCGAGACCTGCA	0.647																																						ENST00000523017.1																			0																																																			286042							g.chr8:8095990C>G			8p23.1	2013-06-10			ENSG00000173295	ENSG00000173295			44371	pseudogene	pseudogene							Standard	NR_024361		Approved		uc011kwt.2		OTTHUMG00000163669		8.37:g.8095990C>G														0	608	-									RNA	SNP	ENST00000310542.3	37																																																																																						0.647	FAM86B3P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000448496.1			3	13	0	0	0	1	0	3	13				
IL10RB	3588	broad.mit.edu	37	21	34668542	34668542	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr21:34668542G>A	ENST00000290200.2	+	7	966	c.858G>A	c.(856-858)tcG>tcA	p.S286S		NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	286				Missing (in Ref. 2; AAA86872). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TTCCATTGTCGGATGAGAATG	0.463																																					Melanoma(67;315 1275 21667 21943 44564)	ENST00000290200.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(856-858)tcG>tcA		interleukin 10 receptor, beta							207.0	183.0	191.0					21																	34668542		2203	4300	6503	SO:0001819	synonymous_variant	3588							g.chr21:34668542G>A	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.858G>A	21.37:g.34668542G>A							p.S286S	NM_000628.4	NP_000619.3					7	966	+								Q9BUU4	Silent	SNP	ENST00000290200.2	37	c.858G>A	CCDS13623.1																																																																																				0.463	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3			49	131	0	0	0	1	0	49	131				
TCEB3	6924	broad.mit.edu	37	1	24082410	24082410	+	Silent	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:24082410T>C	ENST00000418390.2	+	8	2218	c.1947T>C	c.(1945-1947)taT>taC	p.Y649Y	TCEB3_ENST00000609199.1_Silent_p.Y623Y	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	649	Activation domain. {ECO:0000250}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCGAAGAGTATGAGTCGTGGC	0.463																																						ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1945-1947)taT>taC		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							84.0	83.0	83.0					1																	24082410		2203	4300	6503	SO:0001819	synonymous_variant	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24082410T>C	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1947T>C	1.37:g.24082410T>C							p.Y649Y	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	8	2218	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	649			Activation domain (By similarity).		B2R7Q8|Q8IXH1	Silent	SNP	ENST00000418390.2	37	c.1947T>C	CCDS239.2																																																																																				0.463	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		54	47	0	0	0	1	0	54	47				
NUP98	4928	broad.mit.edu	37	11	3800201	3800201	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:3800201C>A	ENST00000324932.7	-	4	677	c.257G>T	c.(256-258)gGa>gTa	p.G86V	RNU7-50P_ENST00000459175.1_RNA|NUP98_ENST00000397007.4_Missense_Mutation_p.G86V|NUP98_ENST00000397004.4_Missense_Mutation_p.G86V|NUP98_ENST00000355260.3_Missense_Mutation_p.G86V|NUP98_ENST00000359171.4_Missense_Mutation_p.G86V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	86	FG repeats 1.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATTTGCTGTTCCTGTTGACGT	0.483			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(256-258)gGa>gTa		nucleoporin 98kDa							156.0	140.0	146.0					11																	3800201		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3800201C>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.257G>T	11.37:g.3800201C>A	ENSP00000316032:p.Gly86Val					NUP98_ENST00000359171.4_Missense_Mutation_p.G86V|NUP98_ENST00000397004.4_Missense_Mutation_p.G86V|NUP98_ENST00000355260.3_Missense_Mutation_p.G86V|NUP98_ENST00000397007.4_Missense_Mutation_p.G86V	p.G86V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	4	677	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	86			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.257G>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411486	0.83340	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.988;1.0;1.0	T	0.77120	-0.2705	9	0.44086	T	0.13	.	18.833	0.92148	0.0:1.0:0.0:0.0	.	86;86;86;86	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	V	86	.	ENSP00000316032:G86V	G	-	2	0	NUP98	3756777	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.861000	0.69553	2.854000	0.98071	0.655000	0.94253	GGA		0.483	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		18	64	1	0	0.0332995	1	0.0335013	18	64				
SOX9	6662	broad.mit.edu	37	17	70120487	70120487	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:70120487C>A	ENST00000245479.2	+	3	1861	c.1489C>A	c.(1489-1491)Cac>Aac	p.H497N		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	497					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAGCCCCCAGCACTGGGAACA	0.597																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(1489-1491)Cac>Aac		SRY (sex determining region Y)-box 9							55.0	56.0	56.0					17																	70120487		2203	4300	6503	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70120487C>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.1489C>A	17.37:g.70120487C>A	ENSP00000245479:p.His497Asn						p.H497N	NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1861	+		Colorectal(1115;0.245)	497					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.1489C>A	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195175	0.78902	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	T	0.75589	-0.95	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	L	0.58925	1.835	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.81709	-0.0809	10	0.32370	T	0.25	.	16.8982	0.86106	0.0:1.0:0.0:0.0	.	497	P48436	SOX9_HUMAN	N	497;433	ENSP00000245479:H497N	ENSP00000245479:H497N	H	+	1	0	SOX9	67632082	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.292000	0.78731	2.157000	0.67596	0.462000	0.41574	CAC		0.597	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		21	80	1	0	4.26978e-12	1	4.66305e-12	21	80				
HSPG2	3339	broad.mit.edu	37	1	22213790	22213790	+	Silent	SNP	G	G	A	rs370399242		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:22213790G>A	ENST00000374695.3	-	9	1075	c.996C>T	c.(994-996)tgC>tgT	p.C332C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	332	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTCCATTCCCGCAGGGGAACT	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13702	0.0		0.0	False		,,,				2504	0.0					ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(994-996)tgC>tgT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)	G		2,4404	4.2+/-10.8	0,2,2201	81.0	77.0	78.0		996	-4.1	0.9	1		78	0,8600		0,0,4300	no	coding-synonymous	HSPG2	NM_005529.5		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		332/4392	22213790	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22213790G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.996C>T	1.37:g.22213790G>A							p.C332C	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	9	1075	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	332			LDL-receptor class A 3.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.996C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	1.335	-0.595654	0.03771	4.54E-4	0.0	ENSG00000142798	ENST00000374673	.	.	.	4.94	-4.11	0.03928	.	.	.	.	.	T	0.63367	0.2505	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61997	-0.6947	4	.	.	.	.	14.6422	0.68734	0.3612:0.0:0.6388:0.0	.	.	.	.	V	159	.	.	A	-	2	0	HSPG2	22086377	0.039000	0.19947	0.935000	0.37517	0.082000	0.17680	0.320000	0.19540	-1.021000	0.03350	-1.598000	0.00824	GCG		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	106	0	0	0	1	0	4	106				
CUX1	1523	broad.mit.edu	37	7	101918550	101918550	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:101918550G>A	ENST00000437600.4	+	17	1829	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	CUX1_ENST00000292538.4_Missense_Mutation_p.E495K|CUX1_ENST00000547394.2_Missense_Mutation_p.E479K|CUX1_ENST00000425244.2_Missense_Mutation_p.E449K|CUX1_ENST00000393824.3_Missense_Mutation_p.E456K|CUX1_ENST00000560541.1_3'UTR	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					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						TGCCCTCCCAGAGGGCCAGGT	0.647																																						ENST00000437600.4																			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.(1477-1479)Gag>Aag		cut-like homeobox 1							84.0	83.0	83.0					7																	101918550		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.chr7:101918550G>A	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	ENST00000437600.4:c.1477G>A	7.37:g.101918550G>A	ENSP00000414091:p.Glu493Lys					CUX1_ENST00000393824.3_Missense_Mutation_p.E456K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Missense_Mutation_p.E495K|CUX1_ENST00000547394.2_Missense_Mutation_p.E479K|CUX1_ENST00000425244.2_Missense_Mutation_p.E449K	p.E493K	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN			17	1829	+			311					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000437600.4	37	c.1477G>A	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195047	0.58017	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	3.78	3.78	0.43462	CASP, C-terminal (1);	.	.	.	.	T	0.30166	0.0756	L	0.52364	1.645	0.25632	N	0.986296	B;B;B;B;B	0.33345	0.029;0.409;0.035;0.228;0.021	B;B;B;B;B	0.37550	0.037;0.253;0.029;0.121;0.032	T	0.19877	-1.0292	9	0.07175	T	0.84	.	16.027	0.80551	0.0:0.0:1.0:0.0	.	456;449;479;493;495	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	K	495;479;449;493	ENSP00000292538:E495K;ENSP00000449371:E479K;ENSP00000409745:E449K;ENSP00000414091:E493K	ENSP00000292538:E495K	E	+	1	0	CUX1	101705270	1.000000	0.71417	0.957000	0.39632	0.887000	0.51463	6.419000	0.73345	1.841000	0.53522	0.561000	0.74099	GAG		0.647	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		25	111	0	0	0	1	0	25	111				
IRX1	79192	broad.mit.edu	37	5	3599817	3599817	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:3599817C>T	ENST00000302006.3	+	2	807	c.755C>T	c.(754-756)cCg>cTg	p.P252L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	252					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCCGAGGCTCCGCACGCGCCC	0.652																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(754-756)cCg>cTg		iroquois homeobox 1							39.0	39.0	39.0					5																	3599817		2201	4299	6500	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599817C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.755C>T	5.37:g.3599817C>T	ENSP00000305244:p.Pro252Leu					CTD-2012M11.3_ENST00000559410.1_RNA	p.P252L	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	807	+			252					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.755C>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	0.480	-0.880336	0.02530	.	.	ENSG00000170549	ENST00000302006	T	0.58652	0.32	4.71	1.46	0.22682	.	0.361157	0.28630	N	0.014678	T	0.22859	0.0552	N	0.02011	-0.69	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.12142	-1.0559	10	0.22706	T	0.39	.	3.7339	0.08503	0.0:0.3041:0.4103:0.2856	.	252	P78414	IRX1_HUMAN	L	252	ENSP00000305244:P252L	ENSP00000305244:P252L	P	+	2	0	IRX1	3652817	0.064000	0.20934	0.013000	0.15412	0.001000	0.01503	1.410000	0.34691	0.413000	0.25759	-0.731000	0.03576	CCG		0.652	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		14	41	0	0	0	1	0	14	41				
FABP6	2172	broad.mit.edu	37	5	159656577	159656577	+	Missense_Mutation	SNP	G	G	A	rs200413774	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:159656577G>A	ENST00000402432.3	+	1	141	c.13G>A	c.(13-15)Ggc>Agc	p.G5S	FABP6_ENST00000393982.1_Missense_Mutation_p.G54S|FABP6_ENST00000393980.4_Missense_Mutation_p.G54S	NM_001445.2	NP_001436.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	5					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTTTCACCGGCAAGTTCGA	0.537													G|||	4	0.000798722	0.0	0.0	5008	,	,		16302	0.001		0.0	False		,,,				2504	0.0031				Colon(29;562 677 12756 16385 20992)	ENST00000393980.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(160-162)Ggc>Agc		fatty acid binding protein 6, ileal							173.0	162.0	166.0					5																	159656577		2203	4300	6503	SO:0001583	missense	2172				bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	g.chr5:159656577G>A	U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"""Fatty acid binding protein family"""	3561	protein-coding gene	gene with protein product	"""illeal lipid-binding protein"", ""ileal bile acid binding protein"", ""gastrotropin"""	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000402432.3:c.13G>A	5.37:g.159656577G>A	ENSP00000385433:p.Gly5Ser					FABP6_ENST00000402432.3_Missense_Mutation_p.G5S|FABP6_ENST00000393982.1_Missense_Mutation_p.G54S	p.G54S	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	306	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	5					Q07DR7|Q8TBI3|Q9UGI7	Missense_Mutation	SNP	ENST00000402432.3	37	c.160G>A	CCDS4349.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.7	4.323719	0.81580	.	.	ENSG00000170231	ENST00000393980;ENST00000393982;ENST00000402432	T;T;T	0.75821	-0.97;-0.97;-0.97	5.41	4.54	0.55810	Calycin-like (1);Cytosolic fatty-acid binding (2);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.86781	0.6015	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88392	0.3009	10	0.87932	D	0	-13.8827	11.8663	0.52495	0.0851:0.0:0.9149:0.0	.	5;54	P51161;P51161-2	FABP6_HUMAN;.	S	54;54;5	ENSP00000377549:G54S;ENSP00000377551:G54S;ENSP00000385433:G5S	ENSP00000377549:G54S	G	+	1	0	FABP6	159589155	1.000000	0.71417	0.797000	0.32132	0.780000	0.44128	5.763000	0.68818	1.275000	0.44379	0.561000	0.74099	GGC		0.537	FABP6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320505.2	NM_001040442		4	204	0	0	0	1	0	4	204				
SSPO	23145	broad.mit.edu	37	7	149524048	149524048	+	RNA	SNP	G	G	C	rs113242894		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:149524048G>C	ENST00000378016.2	+	0	14770							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGACTGTCAGGGTGAGATGTG	0.602																																						ENST00000378016.2																			0													SCO-spondin							161.0	185.0	177.0					7																	149524048		2183	4275	6458			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149524048G>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149524048G>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	14770	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.602	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				73	115	0	0	0	1	0	73	115				
LRRC32	2615	broad.mit.edu	37	11	76371962	76371962	+	Silent	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:76371962C>T	ENST00000407242.2	-	3	917	c.675G>A	c.(673-675)ctG>ctA	p.L225L	LRRC32_ENST00000260061.5_Silent_p.L225L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.L225L|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	225					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGTTGCAGCTCAGGTCTAGCA	0.612																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(673-675)ctG>ctA		leucine rich repeat containing 32							46.0	47.0	47.0					11																	76371962		2200	4292	6492	SO:0001819	synonymous_variant	2615					integral to plasma membrane		g.chr11:76371962C>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.675G>A	11.37:g.76371962C>T						LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.L225L|LRRC32_ENST00000260061.5_Silent_p.L225L|AP001189.4_ENST00000447519.1_RNA	p.L225L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	917	-			225					Q86V06	Silent	SNP	ENST00000407242.2	37	c.675G>A	CCDS8245.1																																																																																				0.612	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		23	74	0	0	0	1	0	23	74				
HPR	3250	broad.mit.edu	37	16	72108202	72108202	+	Silent	SNP	C	C	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:72108202C>G	ENST00000540303.2	+	3	143	c.111C>G	c.(109-111)ccC>ccG	p.P37P	HPR_ENST00000561690.1_Silent_p.P37P|HPR_ENST00000356967.5_Silent_p.P37P|HPR_ENST00000228226.8_Silent_p.P74P	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	37	Sushi.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TCCCGAAGCCCCCTGAGATTG	0.478																																						ENST00000540303.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20						c.(109-111)ccC>ccG		haptoglobin-related protein							195.0	121.0	144.0					16																	72108202		1920	4118	6038	SO:0001819	synonymous_variant	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72108202C>G	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.111C>G	16.37:g.72108202C>G						HPR_ENST00000356967.5_Silent_p.P37P|HPR_ENST00000561690.1_Silent_p.P37P|HPR_ENST00000228226.8_Silent_p.P74P	p.P37P	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN			3	143	+		Ovarian(137;0.125)	37			Sushi.		Q7LE20|Q92658|Q92659|Q9ULB0	Silent	SNP	ENST00000540303.2	37	c.111C>G	CCDS42193.1																																																																																				0.478	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		19	83	0	0	0	1	0	19	83				
TP53BP1	7158	broad.mit.edu	37	15	43783898	43783898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:43783898C>A	ENST00000263801.3	-	4	577	c.325G>T	c.(325-327)Gag>Tag	p.E109*	TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E114*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E114*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E114*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	109					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTAACTGCTCAATGACCTGA	0.378								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(325-327)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							188.0	192.0	190.0					15																	43783898		2201	4298	6499	SO:0001587	stop_gained	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43783898C>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.325G>T	15.37:g.43783898C>A	ENSP00000263801:p.Glu109*					TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E114*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E114*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E114*	p.E109*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	4	577	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	109					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	c.325G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293822	0.95546	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	4.64	4.64	0.57946	.	0.157315	0.41396	D	0.000890	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-5.9942	12.8522	0.57864	0.0:1.0:0.0:0.0	.	.	.	.	X	109;114;114;114;114	.	ENSP00000263801:E109X	E	-	1	0	TP53BP1	41571190	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.031000	0.57267	2.417000	0.82017	0.585000	0.79938	GAG		0.378	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			94	158	1	0	5.66435e-50	1	6.31062e-50	94	158				
KAZN	23254	broad.mit.edu	37	1	15287307	15287307	+	Silent	SNP	C	C	G	rs200260939		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:15287307C>G	ENST00000376030.2	+	2	648	c.354C>G	c.(352-354)acC>acG	p.T118T	KAZN_ENST00000361144.5_Silent_p.T112T|KAZN_ENST00000503743.1_Silent_p.T118T|KAZN_ENST00000400798.2_Silent_p.T24T|KAZN_ENST00000400797.3_Silent_p.T24T|KAZN_ENST00000422387.2_Silent_p.T118T	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	118					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TCTCGGCCACCGAGCTCAGGG	0.612																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(352-354)acC>acG		kazrin, periplakin interacting protein							28.0	28.0	28.0					1																	15287307		2203	4300	6503	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15287307C>G	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.354C>G	1.37:g.15287307C>G						KAZN_ENST00000422387.2_Silent_p.T118T|KAZN_ENST00000400797.3_Silent_p.T24T|KAZN_ENST00000503743.1_Silent_p.T118T|KAZN_ENST00000361144.5_Silent_p.T112T|KAZN_ENST00000400798.2_Silent_p.T24T	p.T118T	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN			2	648	+			118					B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.354C>G	CCDS152.2																																																																																				0.612	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		3	20	0	0	0	1	0	3	20				
DAB2IP	153090	broad.mit.edu	37	9	124528890	124528890	+	Silent	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:124528890C>T	ENST00000408936.3	+	9	1760	c.1578C>T	c.(1576-1578)ctC>ctT	p.L526L	DAB2IP_ENST00000309989.1_Silent_p.L402L|DAB2IP_ENST00000259371.2_Silent_p.L498L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	526	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TGCGCTTCCTCTGCCCAGCCA	0.632																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1576-1578)ctC>ctT		DAB2 interacting protein							138.0	117.0	124.0					9																	124528890		2203	4300	6503	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124528890C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1578C>T	9.37:g.124528890C>T						DAB2IP_ENST00000309989.1_Silent_p.L402L|DAB2IP_ENST00000259371.2_Silent_p.L498L	p.L526L			Q5VWQ8	DAB2P_HUMAN			9	1760	+			526			Ras-GAP.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.1578C>T																																																																																					0.632	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		41	183	0	0	0	1	0	41	183				
KMT2D	8085	broad.mit.edu	37	12	49438647	49438647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:49438647G>A	ENST00000301067.7	-	19	4842	c.4843C>T	c.(4843-4845)Cga>Tga	p.R1615*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1615					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGCCGTCCTCGCCGTTGGCGC	0.612																																						ENST00000301067.7																			0											c.(4843-4845)Cga>Tga		lysine (K)-specific methyltransferase 2D							85.0	92.0	90.0					12																	49438647		2118	4231	6349	SO:0001587	stop_gained	8085							g.chr12:49438647G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4843C>T	12.37:g.49438647G>A	ENSP00000301067:p.Arg1615*						p.R1615*	NM_003482.3	NP_003473.3					19	4842	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.4843C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	46	12.285481	0.99653	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.81	5.81	0.92471	.	0.000000	0.30252	N	0.010058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.854	0.92244	0.0:0.0:1.0:0.0	.	.	.	.	X	1615	.	ENSP00000301067:R1615X	R	-	1	2	MLL2	47724914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.592000	0.61027	2.746000	0.94184	0.655000	0.94253	CGA		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			27	97	0	0	0	1	0	27	97				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	50	0	0	0	1	0	4	50				
DMXL1	1657	broad.mit.edu	37	5	118454614	118454614	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:118454614G>A	ENST00000311085.8	+	8	928	c.848G>A	c.(847-849)tGc>tAc	p.C283Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.C283Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	283										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGAGGTGACTGCAGCCATTGG	0.353																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(847-849)tGc>tAc		Dmx-like 1							145.0	140.0	142.0					5																	118454614		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118454614G>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.848G>A	5.37:g.118454614G>A	ENSP00000309690:p.Cys283Tyr					DMXL1_ENST00000539542.1_Missense_Mutation_p.C283Y	p.C283Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	8	928	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	283						Missense_Mutation	SNP	ENST00000311085.8	37	c.848G>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.248179	0.00271	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.22134	1.97;2.99;2.99	4.94	-0.228	0.13098	WD40 repeat-like-containing domain (1);	0.468479	0.26847	N	0.022192	T	0.07458	0.0188	N	0.14661	0.345	0.23628	N	0.997259	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37798	-0.9690	10	0.02654	T	1	1.7002	4.7996	0.13290	0.3117:0.0:0.4434:0.2449	.	283;283	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	283	ENSP00000427692:C283Y;ENSP00000309690:C283Y;ENSP00000439479:C283Y	ENSP00000309690:C283Y	C	+	2	0	DMXL1	118482513	0.961000	0.32948	0.986000	0.45419	0.227000	0.25037	0.192000	0.17096	-0.038000	0.13624	-0.940000	0.02684	TGC		0.353	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		15	59	0	0	0	1	0	15	59				
SLC10A2	6555	broad.mit.edu	37	13	103710685	103710685	+	Missense_Mutation	SNP	G	G	A	rs117447044		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr13:103710685G>A	ENST00000245312.3	-	2	1021	c.425C>T	c.(424-426)cCg>cTg	p.P142L		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	142					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.P142L(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GAGGCACAGCGGCATCATTCC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18040	0.0		0.001	False		,,,				2504	0.0					ENST00000245312.3																			1	Substitution - Missense(1)	p.P142L(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(424-426)cCg>cTg		solute carrier family 10 (sodium/bile acid cotransporter), member 2		G	LEU/PRO	0,4406		0,0,2203	130.0	107.0	115.0		425	5.7	1.0	13	dbSNP_133	115	7,8593	5.7+/-21.5	0,7,4293	yes	missense	SLC10A2	NM_000452.2	98	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	probably-damaging	142/349	103710685	7,12999	2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103710685G>A	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.425C>T	13.37:g.103710685G>A	ENSP00000245312:p.Pro142Leu						p.P142L	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			2	1021	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		142					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.425C>T	CCDS9506.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	32	5.168682	0.94768	0.0	8.14E-4	ENSG00000125255	ENST00000245312	T	0.15834	2.39	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77059	-0.2728	10	0.87932	D	0	-10.2677	18.4783	0.90800	0.0:0.0:1.0:0.0	.	142	Q12908	NTCP2_HUMAN	L	142	ENSP00000245312:P142L	ENSP00000245312:P142L	P	-	2	0	SLC10A2	102508686	1.000000	0.71417	0.971000	0.41717	0.865000	0.49528	9.640000	0.98453	2.873000	0.98535	0.563000	0.77884	CCG		0.483	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			19	61	0	0	0	1	0	19	61				
GLDC	2731	broad.mit.edu	37	9	6553457	6553457	+	Missense_Mutation	SNP	G	G	A	rs386833556		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:6553457G>A	ENST00000321612.6	-	20	2518	c.2368C>T	c.(2368-2370)Cgg>Tgg	p.R790W		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	790					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TCCTCATTCCGCTTTAGTGAA	0.478																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37	GRCh37	CM043947	GLDC	M		c.(2368-2370)Cgg>Tgg		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						93.0	88.0	90.0					9																	6553457		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6553457G>A	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2368C>T	9.37:g.6553457G>A	ENSP00000370737:p.Arg790Trp						p.R790W	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	20	2518	-		Acute lymphoblastic leukemia(23;0.161)	790					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2368C>T	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	7.649	0.682440	0.14907	.	.	ENSG00000178445	ENST00000321612	D	0.99201	-5.55	4.84	3.94	0.45596	Pyridoxal phosphate-dependent transferase, major domain (1);	0.467407	0.24559	N	0.037495	D	0.95717	0.8607	N	0.24115	0.695	0.09310	N	1	B	0.30634	0.288	B	0.15484	0.013	D	0.92228	0.5790	10	0.87932	D	0	-0.03	9.835	0.40965	0.0748:0.0:0.7865:0.1387	.	790	P23378	GCSP_HUMAN	W	790	ENSP00000370737:R790W	ENSP00000370737:R790W	R	-	1	2	GLDC	6543457	0.375000	0.25089	0.015000	0.15790	0.004000	0.04260	1.233000	0.32648	1.173000	0.42796	0.655000	0.94253	CGG		0.478	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		21	70	0	0	0	1	0	21	70				
TCF21	6943	broad.mit.edu	37	6	134210907	134210907	+	Silent	SNP	G	G	A	rs201214778		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:134210907G>A	ENST00000367882.4	+	1	632	c.372G>A	c.(370-372)gcG>gcA	p.A124A	RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|TCF21_ENST00000237316.3_Silent_p.A124A|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	124	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TCAGGCTGGCGTCCAGCTACA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		16024	0.001		0.0	False		,,,				2504	0.0					ENST00000367882.4																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(370-372)gcG>gcA		transcription factor 21							90.0	88.0	89.0					6																	134210907		2198	4299	6497	SO:0001819	synonymous_variant	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210907G>A	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.372G>A	6.37:g.134210907G>A						RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.A124A	p.A124A	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	632	+	Colorectal(23;0.221)|Breast(56;0.247)		124			Helix-loop-helix motif.		E1P581|O43545|Q6ICV0|Q9BZ14	Silent	SNP	ENST00000367882.4	37	c.372G>A	CCDS5167.1																																																																																				0.617	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		56	148	0	0	0	1	0	56	148				
SCAF4	57466	broad.mit.edu	37	21	33074679	33074679	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr21:33074679C>T	ENST00000286835.7	-	5	717	c.335G>A	c.(334-336)cGt>cAt	p.R112H	SCAF4_ENST00000434667.3_Missense_Mutation_p.R97H|SCAF4_ENST00000399804.1_Missense_Mutation_p.R112H	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	112	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTTCAGCACACGAACTATTTT	0.358																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(334-336)cGt>cAt		SR-related CTD-associated factor 4							82.0	75.0	77.0					21																	33074679		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33074679C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.335G>A	21.37:g.33074679C>T	ENSP00000286835:p.Arg112His					SCAF4_ENST00000434667.3_Missense_Mutation_p.R97H|SCAF4_ENST00000399804.1_Missense_Mutation_p.R112H	p.R112H	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			5	717	-			112			CID.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.335G>A	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610713	0.87258	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.48836	0.8;0.8;0.8	5.69	5.69	0.88448	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.000000	0.85682	D	0.000000	T	0.73481	0.3592	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.997;0.998	T	0.76586	-0.2905	10	0.87932	D	0	-13.2245	19.8097	0.96542	0.0:1.0:0.0:0.0	.	97;112;112;112	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	H	97;112;112	ENSP00000402377:R97H;ENSP00000286835:R112H;ENSP00000382703:R112H	ENSP00000286835:R112H	R	-	2	0	SCAF4	31996550	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.706000	0.84615	2.685000	0.91497	0.484000	0.47621	CGT		0.358	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		14	34	0	0	0	1	0	14	34				
TP63	8626	broad.mit.edu	37	3	189584501	189584501	+	Missense_Mutation	SNP	G	G	A	rs121908849		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:189584501G>A	ENST00000264731.3	+	6	886	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	TP63_ENST00000382063.4_Missense_Mutation_p.R181Q|TP63_ENST00000320472.5_Missense_Mutation_p.R266Q|TP63_ENST00000440651.2_Missense_Mutation_p.R266Q|TP63_ENST00000354600.5_Missense_Mutation_p.R172Q|TP63_ENST00000392461.3_Missense_Mutation_p.R172Q|TP63_ENST00000392463.2_Missense_Mutation_p.R172Q|TP63_ENST00000456148.1_Missense_Mutation_p.R172Q|TP63_ENST00000437221.1_Missense_Mutation_p.R172Q|TP63_ENST00000418709.2_Missense_Mutation_p.R266Q|TP63_ENST00000449992.1_Missense_Mutation_p.R87Q|TP63_ENST00000392460.3_Missense_Mutation_p.R266Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	266			R -> Q (in EEC3). {ECO:0000269|PubMed:11462173}.		apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATTTGATTCGAGTAGAGGGG	0.403										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	GRCh37	CM013065	TP63	M	rs121908849	c.(796-798)cGa>cAa		tumor protein p63							85.0	75.0	79.0					3																	189584501		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189584501G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.797G>A	3.37:g.189584501G>A	ENSP00000264731:p.Arg266Gln	HNSCC(45;0.13)				TP63_ENST00000320472.5_Missense_Mutation_p.R266Q|TP63_ENST00000437221.1_Missense_Mutation_p.R172Q|TP63_ENST00000392463.2_Missense_Mutation_p.R172Q|TP63_ENST00000440651.2_Missense_Mutation_p.R266Q|TP63_ENST00000354600.5_Missense_Mutation_p.R172Q|TP63_ENST00000418709.2_Missense_Mutation_p.R266Q|TP63_ENST00000449992.1_Missense_Mutation_p.R87Q|TP63_ENST00000392460.3_Missense_Mutation_p.R266Q|TP63_ENST00000382063.4_Missense_Mutation_p.R181Q|TP63_ENST00000456148.1_Missense_Mutation_p.R172Q|TP63_ENST00000392461.3_Missense_Mutation_p.R172Q	p.R266Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	6	886	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		266		R -> Q (in EEC3).			O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.797G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404027	0.83230	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.63	5.63	0.86233	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	M	0.73372	2.23	0.80722	A	1	P;P;P;P;P;P;P;D;P;D	0.58268	0.753;0.897;0.753;0.753;0.621;0.753;0.792;0.982;0.792;0.962	B;B;B;B;B;B;B;P;B;B	0.45610	0.109;0.368;0.153;0.109;0.109;0.153;0.174;0.487;0.364;0.368	D	0.99087	1.0839	8	.	.	.	-5.7468	18.6853	0.91560	0.0:0.0:1.0:0.0	.	87;266;266;172;172;172;172;266;266;266	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	Q	266;266;266;266;266;181;172;172;172;172;87;172	ENSP00000264731:R266Q;ENSP00000407144:R266Q;ENSP00000317510:R266Q;ENSP00000376253:R266Q;ENSP00000394337:R266Q;ENSP00000371495:R181Q;ENSP00000346614:R172Q;ENSP00000392488:R172Q;ENSP00000376256:R172Q;ENSP00000376254:R172Q;ENSP00000387839:R87Q;ENSP00000389485:R172Q	.	R	+	2	0	TP63	191067195	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.771000	0.98977	2.663000	0.90544	0.650000	0.86243	CGA		0.403	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		14	52	0	0	0	1	0	14	52				
TADA2B	93624	broad.mit.edu	37	4	7056021	7056021	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:7056021C>T	ENST00000310074.7	+	2	692	c.503C>T	c.(502-504)cCg>cTg	p.P168L	TADA2B_ENST00000512388.1_Missense_Mutation_p.P93L|TADA2B_ENST00000515646.1_Missense_Mutation_p.P76L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	168					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GGCTACATGCCGCTGCGGGAT	0.627																																						ENST00000310074.7																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						c.(502-504)cCg>cTg		transcriptional adaptor 2B							22.0	24.0	23.0					4																	7056021		2058	4175	6233	SO:0001583	missense	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056021C>T	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.503C>T	4.37:g.7056021C>T	ENSP00000308022:p.Pro168Leu					TADA2B_ENST00000512388.1_Missense_Mutation_p.P93L|TADA2B_ENST00000515646.1_Missense_Mutation_p.P76L	p.P168L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN			2	692	+			168					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	ENST00000310074.7	37	c.503C>T	CCDS47007.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658250	0.67586	.	.	ENSG00000173011	ENST00000506692;ENST00000310074;ENST00000512388;ENST00000515646;ENST00000510704	T;T;T;T;T	0.73152	-0.72;1.12;1.12;1.12;1.12	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.76751	0.4031	M	0.87097	2.86	0.80722	D	1	D;P	0.55172	0.97;0.912	B;B	0.41946	0.371;0.135	T	0.82615	-0.0370	10	0.54805	T	0.06	-42.8424	18.9307	0.92564	0.0:1.0:0.0:0.0	.	93;168	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	L	76;168;93;76;76	ENSP00000422398:P76L;ENSP00000308022:P168L;ENSP00000423947:P93L;ENSP00000423181:P76L;ENSP00000425731:P76L	ENSP00000308022:P168L	P	+	2	0	TADA2B	7106922	1.000000	0.71417	0.975000	0.42487	0.851000	0.48451	7.401000	0.79962	2.481000	0.83766	0.561000	0.74099	CCG		0.627	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		6	26	0	0	0	1	0	6	26				
P2RY11	5032	broad.mit.edu	37	19	10226486	10226486	+	IGR	SNP	G	G	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:10226486G>C	ENST00000321826.4	+	0	1943				EIF3G_ENST00000253108.4_Missense_Mutation_p.N238K	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			GGATGGTGGCGTTGTCGTCGG	0.642																																						ENST00000253108.4																			0				central_nervous_system(1)|lung(1)	2						c.(712-714)aaC>aaG		eukaryotic translation initiation factor 3, subunit G							121.0	113.0	116.0					19																	10226486		2203	4300	6503	SO:0001628	intergenic_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10226486G>C	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166		19.37:g.10226486G>C							p.N238K	NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		9	756	-			238					B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.714C>G	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	G	5.204	0.223257	0.09863	.	.	ENSG00000130811	ENST00000253108	T	0.35789	1.29	4.22	-5.61	0.02489	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.48642	1.525	0.53005	D	0.999966	P	0.36483	0.555	B	0.30401	0.115	T	0.43228	-0.9404	10	0.07325	T	0.83	-28.3301	12.6858	0.56946	0.4747:0.0:0.5253:0.0	.	238	O75821	EIF3G_HUMAN	K	238	ENSP00000253108:N238K	ENSP00000253108:N238K	N	-	3	2	EIF3G	10087486	0.001000	0.12720	0.841000	0.33234	0.924000	0.55760	-1.499000	0.02285	-1.686000	0.01439	-1.036000	0.02392	AAC		0.642	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		26	116	0	0	0	1	0	26	116				
TRDC	28526	broad.mit.edu	37	14	22932115	22932115	+	RNA	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr14:22932115G>A	ENST00000390477.2	+	0	192				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000556777.1_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											TGGTAAATATGAAGATTCAAA	0.393																																						ENST00000514473.2																			0																				65.0	64.0	65.0					14																	22932115		1864	4130	5994			0							g.chr14:22932115G>A	M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22932115G>A						AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA								0	225	-									RNA	SNP	ENST00000390477.2	37																																																																																						0.393	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332		15	36	0	0	0	1	0	15	36				
SYNE2	23224	broad.mit.edu	37	14	64519872	64519872	+	Missense_Mutation	SNP	C	C	G	rs150085946	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr14:64519872C>G	ENST00000344113.4	+	48	9453	c.9241C>G	c.(9241-9243)Cgg>Ggg	p.R3081G	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.R3114G|SYNE2_ENST00000358025.3_Missense_Mutation_p.R3081G	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3081					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAAAGCAGACGGCTCAATGC	0.333																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(9241-9243)Cgg>Ggg		spectrin repeat containing, nuclear envelope 2							45.0	44.0	44.0					14																	64519872		1811	4074	5885	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64519872C>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9241C>G	14.37:g.64519872C>G	ENSP00000341781:p.Arg3081Gly					SYNE2_ENST00000554584.1_Missense_Mutation_p.R3114G|SYNE2_ENST00000344113.4_Missense_Mutation_p.R3081G|SYNE2_ENST00000357395.3_5'UTR	p.R3081G	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	9471	+			3081					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.9241C>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.741522	0.00675	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56611	0.83;0.83;0.45	5.68	0.677	0.17964	.	0.520144	0.16227	N	0.223792	T	0.26666	0.0652	N	0.08118	0	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.13872	-1.0493	10	0.59425	D	0.04	.	4.018	0.09652	0.1041:0.5425:0.1015:0.2519	.	3081;3081	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	G	3081;3081;3114;3114	ENSP00000350719:R3081G;ENSP00000341781:R3081G;ENSP00000452570:R3114G	ENSP00000261678:R3114G	R	+	1	2	SYNE2	63589625	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.985000	0.03751	-0.132000	0.11557	-1.644000	0.00765	CGG		0.333	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		12	48	0	0	0	1	0	12	48				
SLC25A25	114789	broad.mit.edu	37	9	130868110	130868110	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:130868110G>A	ENST00000373064.5	+	6	1011	c.748G>A	c.(748-750)Gtc>Atc	p.V250I	RP11-395P17.11_ENST00000602939.1_RNA|SLC25A25_ENST00000373066.5_Missense_Mutation_p.V282I|SLC25A25_ENST00000373068.2_Missense_Mutation_p.V284I|SLC25A25_ENST00000373069.5_Missense_Mutation_p.V296I|SLC25A25_ENST00000433501.1_Missense_Mutation_p.V147I|SLC25A25_ENST00000432073.2_Missense_Mutation_p.V270I	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	250					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TGGCATCAACGTCCTCAAAAT	0.582																																						ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(844-846)Gtc>Atc		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							72.0	65.0	67.0					9																	130868110		2203	4300	6503	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130868110G>A	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.748G>A	9.37:g.130868110G>A	ENSP00000362155:p.Val250Ile					SLC25A25_ENST00000433501.1_Missense_Mutation_p.V147I|SLC25A25_ENST00000373064.5_Missense_Mutation_p.V250I|SLC25A25_ENST00000432073.2_Missense_Mutation_p.V270I|SLC25A25_ENST00000373069.5_Missense_Mutation_p.V296I|SLC25A25_ENST00000373068.2_Missense_Mutation_p.V284I	p.V282I	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			7	1251	+			250					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	c.844G>A	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488128	0.84854	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.77	4.88	0.63580	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.82843	0.5125	M	0.66378	2.025	0.80722	D	1	D;D;P;D	0.69078	0.969;0.997;0.903;0.985	P;P;B;P	0.55545	0.665;0.778;0.416;0.682	T	0.82845	-0.0256	10	0.40728	T	0.16	-44.8294	14.1038	0.65075	0.0719:0.0:0.9281:0.0	.	250;282;270;284	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	I	284;296;270;282;250;147	ENSP00000362159:V284I;ENSP00000362160:V296I;ENSP00000410053:V270I;ENSP00000362157:V282I;ENSP00000362155:V250I;ENSP00000401672:V147I	ENSP00000362155:V250I	V	+	1	0	SLC25A25	129907931	1.000000	0.71417	0.938000	0.37757	0.981000	0.71138	6.698000	0.74608	1.441000	0.47550	0.561000	0.74099	GTC		0.582	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		12	85	0	0	0	1	0	12	85				
TAS2R20	259295	broad.mit.edu	37	12	11150472	11150472	+	Start_Codon_SNP	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:11150472C>A	ENST00000538986.1	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	1					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GAAAACTCATCATGTCTAAAC	0.328																																						ENST00000538986.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1-3)atG>atT		taste receptor, type 2, member 20							19.0	21.0	20.0					12																	11150472		2198	4290	6488	SO:0001582	initiator_codon_variant	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11150472C>A	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.3G>T	12.37:g.11150472C>A	ENSP00000441624:p.Met1Ile					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.M1I	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN			1	2	-			1					P59549|Q2HIZ4|Q496D8|Q645X9	Translation_Start_Site	SNP	ENST00000538986.1	37	c.3G>T	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335197	0.41398	.	.	ENSG00000255837	ENST00000538986	T	0.02103	4.45	2.94	2.94	0.34122	.	0.067037	0.53938	N	0.000048	T	0.06005	0.0156	.	.	.	0.09310	N	1	P	0.46656	0.882	P	0.53102	0.718	T	0.05869	-1.0859	9	0.87932	D	0	.	11.3094	0.49356	0.0:1.0:0.0:0.0	.	1	P59543	T2R20_HUMAN	I	1	ENSP00000441624:M1I	ENSP00000441624:M1I	M	-	3	0	TAS2R20	11041739	0.038000	0.19896	0.007000	0.13788	0.026000	0.11368	0.476000	0.22180	1.486000	0.48398	0.585000	0.79938	ATG		0.328	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889	Missense_Mutation	4	34	1	0	0.00024832	1	0.000256032	4	34				
SMG1	23049	broad.mit.edu	37	16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	rs190057031	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000389467.3_Missense_Mutation_p.S12G|CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000567737.1_5'UTR			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736													T|||	19	0.00379393	0.0038	0.0072	5008	,	,		9587	0.001		0.006	False		,,,				2504	0.002					ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(34-36)Agc>Ggc		SMG1 phosphatidylinositol 3-kinase-related kinase							3.0	5.0	4.0					16																	18937330		1189	3103	4292	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18937330T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.34A>G	16.37:g.18937330T>C	ENSP00000402515:p.Ser12Gly					SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G	p.S12G			Q96Q15	SMG1_HUMAN			1	446	-			12			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.34A>G	CCDS45430.1	56	0.02564102564102564	34	0.06910569105691057	10	0.027624309392265192	3	0.005244755244755245	9	0.011873350923482849	t	16.40	3.112756	0.56398	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01252	5.1;5.1	4.19	4.19	0.49359	.	0.256528	0.31134	N	0.008187	T	0.00144	0.0004	N	0.19112	0.55	0.30658	N	0.754677	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.72032	D	0.01	.	6.7847	0.23668	0.0:0.1536:0.0:0.8464	.	12	Q96Q15	SMG1_HUMAN	G	12	ENSP00000402515:S12G;ENSP00000374118:S12G	ENSP00000374118:S12G	S	-	1	0	SMG1	18844831	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.875000	0.48491	1.749000	0.51849	0.374000	0.22700	AGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		3	14	0	0	0	1	0	3	14				
MAN2B1	4125	broad.mit.edu	37	19	12758310	12758310	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:12758310C>T	ENST00000456935.2	-	22	2807	c.2767G>A	c.(2767-2769)Gta>Ata	p.V923I	MAN2B1_ENST00000221363.4_Missense_Mutation_p.V922I|CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.R109H	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	923					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCTCTCCTACGGCAAACTGG	0.617																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2767-2769)Gta>Ata		mannosidase, alpha, class 2B, member 1							97.0	96.0	96.0					19																	12758310		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12758310C>T		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2767G>A	19.37:g.12758310C>T	ENSP00000395473:p.Val923Ile					CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.R109H|MAN2B1_ENST00000221363.4_Missense_Mutation_p.V922I	p.V923I	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			22	2807	-			923					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.2767G>A	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	9.043	0.990061	0.18966	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.79845	-1.31;-1.31	5.76	-10.9	0.00192	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	1.302820	0.05478	N	0.554352	T	0.64735	0.2625	L	0.49126	1.545	0.09310	N	1	B;P	0.35807	0.224;0.522	B;B	0.23852	0.018;0.049	T	0.45673	-0.9245	10	0.16896	T	0.51	-0.1855	10.714	0.46002	0.0:0.1577:0.538:0.3043	.	922;923	G5E928;O00754	.;MA2B1_HUMAN	I	923;862;922	ENSP00000395473:V923I;ENSP00000221363:V922I	ENSP00000221363:V922I	V	-	1	0	MAN2B1	12619310	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.067000	0.14510	-2.208000	0.00740	-1.099000	0.02127	GTA		0.617	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			49	138	0	0	0	1	0	49	138				
OR4C11	219429	broad.mit.edu	37	11	55370996	55370996	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:55370996T>C	ENST00000302231.4	-	1	878	c.854A>G	c.(853-855)tAc>tGc	p.Y285C		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CCTCAGTGTGTAGATGAGTGG	0.403																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(853-855)tAc>tGc		olfactory receptor, family 4, subfamily C, member 11							65.0	58.0	60.0					11																	55370996		2177	4003	6180	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55370996T>C	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.854A>G	11.37:g.55370996T>C	ENSP00000306651:p.Tyr285Cys						p.Y285C	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	878	-			285					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.854A>G	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.043487	0.55003	.	.	ENSG00000172188	ENST00000302231	T	0.61274	0.12	4.33	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	U	0.000473	T	0.79167	0.4400	M	0.93854	3.465	0.33521	D	0.592429	D	0.89917	1.0	D	0.91635	0.999	D	0.85069	0.0939	10	0.87932	D	0	.	9.1022	0.36676	0.0:0.0902:0.0:0.9098	.	285	Q6IEV9	OR4CB_HUMAN	C	285	ENSP00000306651:Y285C	ENSP00000306651:Y285C	Y	-	2	0	OR4C11	55127572	1.000000	0.71417	0.005000	0.12908	0.906000	0.53458	4.789000	0.62446	0.806000	0.34183	0.386000	0.25728	TAC		0.403	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		20	11	0	0	0	1	0	20	11				
MAGEA4	4103	broad.mit.edu	37	X	151081003	151081003	+	5'Flank	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:151081003T>C	ENST00000370340.3	+	0	0				MAGEA4_ENST00000370337.4_5'Flank|RP11-366F6.2_ENST00000445330.1_RNA|RP11-366F6.2_ENST00000411474.1_RNA|MAGEA4_ENST00000393920.1_5'Flank|RP11-366F6.2_ENST00000424126.1_RNA|MAGEA4_ENST00000393921.1_5'Flank|MAGEA4_ENST00000276344.2_5'Flank			P43358	MAGA4_HUMAN	melanoma antigen family A, 4											breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGCTCTGTGAGGAGGCAA	0.622																																						ENST00000424126.1																			0																				17.0	16.0	16.0					X																	151081003		874	1990	2864	SO:0001631	upstream_gene_variant	4103							g.chrX:151081003T>C		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174		X.37:g.151081003T>C	Exception_encountered													0	249	-								Q14798	RNA	SNP	ENST00000370340.3	37		CCDS14702.1																																																																																				0.622	MAGEA4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060896.1	NM_002362		4	12	0	0	0	1	0	4	12				
SLC4A3	6508	broad.mit.edu	37	2	220502516	220502516	+	Missense_Mutation	SNP	C	C	T	rs140297559		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:220502516C>T	ENST00000358055.3	+	17	3261	c.2749C>T	c.(2749-2751)Cgc>Tgc	p.R917C	SLC4A3_ENST00000273063.6_Missense_Mutation_p.R944C|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R944C|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R917C|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R917C			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	917	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGAACAGCCGCTTCCTGGG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18376	0.0		0.001	False		,,,				2504	0.0					ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2749-2751)Cgc>Tgc		solute carrier family 4 (anion exchanger), member 3		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	70.0	54.0	59.0		2749,2830	4.7	1.0	2	dbSNP_134	59	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	SLC4A3	NM_005070.3,NM_201574.2	180,180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	917/1233,944/1260	220502516	3,13003	2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220502516C>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2749C>T	2.37:g.220502516C>T	ENSP00000350756:p.Arg917Cys					SLC4A3_ENST00000273063.6_Missense_Mutation_p.R944C|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R917C|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R944C|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R917C	p.R917C			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	3261	+		Renal(207;0.0183)	917			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2749C>T	CCDS2445.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.9	4.218774	0.79464	0.0	3.49E-4	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	4.7	4.7	0.59300	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89979	0.6872	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.72625	0.931;0.978;0.962	D	0.91338	0.5095	10	0.87932	D	0	.	18.258	0.90025	0.0:1.0:0.0:0.0	.	621;917;944	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	C	917;917;944;944;177;917	ENSP00000350756:R917C;ENSP00000362865:R917C;ENSP00000273063:R944C;ENSP00000362867:R944C;ENSP00000314006:R917C	ENSP00000273063:R944C	R	+	1	0	SLC4A3	220210760	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.249000	0.32839	2.611000	0.88343	0.551000	0.68910	CGC		0.622	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		15	63	0	0	0	1	0	15	63				
COL6A5	256076	broad.mit.edu	37	3	130159339	130159339	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:130159339A>G	ENST00000432398.2	+	35	6651	c.6157A>G	c.(6157-6159)Aat>Gat	p.N2053D	COL6A5_ENST00000265379.6_Missense_Mutation_p.N2053D	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2053	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCAACAGCTAAATGGAGAAGC	0.408																																						ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(6157-6159)Aat>Gat		collagen, type VI, alpha 5							92.0	88.0	89.0					3																	130159339		1893	4126	6019	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130159339A>G	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6157A>G	3.37:g.130159339A>G	ENSP00000390895:p.Asn2053Asp					COL6A5_ENST00000432398.2_Missense_Mutation_p.N2053D	p.N2053D			A8TX70	CO6A5_HUMAN			35	6651	+			2053			Nonhelical region.|VWFA 9.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6157A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.483|8.483	0.860182|0.860182	0.17178|0.17178	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379	.|D;D	.|0.83419	.|-1.72;-1.72	5.76|5.76	-4.28|-4.28	0.03732|0.03732	.|von Willebrand factor, type A (3);	.|0.610959	.|0.14598	.|N	.|0.309832	T|T	0.72236|0.72236	0.3435|0.3435	L|L	0.46614|0.46614	1.455|1.455	0.09310|0.09310	N|N	1|1	.|B;B	.|0.18461	.|0.028;0.004	.|B;B	.|0.17433	.|0.018;0.007	T|T	0.60105|0.60105	-0.7328|-0.7328	5|10	.|0.44086	.|T	.|0.13	.|.	8.5018|8.5018	0.33163|0.33163	0.4251:0.436:0.1389:0.0|0.4251:0.436:0.1389:0.0	.|.	.|2053;2053	.|A8TX70;A8TX70-2	.|CO6A5_HUMAN;.	R|D	304|2053	.|ENSP00000390895:N2053D;ENSP00000265379:N2053D	.|ENSP00000265379:N2053D	K|N	+|+	2|1	0|0	COL6A5|COL6A5	131642029|131642029	0.000000|0.000000	0.05858|0.05858	0.018000|0.018000	0.16275|0.16275	0.742000|0.742000	0.42306|0.42306	-0.081000|-0.081000	0.11321|0.11321	-0.432000|-0.432000	0.07297|0.07297	-0.250000|-0.250000	0.11733|0.11733	AAA|AAT		0.408	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		17	44	0	0	0	1	0	17	44				
STAG3	10734	broad.mit.edu	37	7	99802998	99802998	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:99802998C>T	ENST00000426455.1	+	29	3636	c.3229C>T	c.(3229-3231)Cgc>Tgc	p.R1077C	GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.R1019C|STAG3_ENST00000317296.5_Missense_Mutation_p.R1077C|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1077					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAAGAGGAGGCGCGTTGAAGG	0.582																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(3229-3231)Cgc>Tgc		stromal antigen 3							59.0	50.0	53.0					7																	99802998		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99802998C>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3229C>T	7.37:g.99802998C>T	ENSP00000400359:p.Arg1077Cys					GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.R1077C|STAG3_ENST00000394018.2_Missense_Mutation_p.R1019C	p.R1077C			Q9UJ98	STAG3_HUMAN			29	3636	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		1077					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.3229C>T	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	c	10.25	1.297997	0.23650	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000379577;ENST00000317296;ENST00000412190	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.74	3.85	0.44370	.	1.107710	0.06997	N	0.822629	T	0.17577	0.0422	N	0.19112	0.55	0.80722	D	1	B;B;B	0.28850	0.031;0.225;0.149	B;B;B	0.20184	0.008;0.028;0.012	T	0.03043	-1.1079	10	0.52906	T	0.07	-4.6325	8.0591	0.30623	0.0:0.8843:0.0:0.1157	.	1019;1077;1077	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	C	1077;1019;740;97;1077;35	ENSP00000400359:R1077C;ENSP00000377586:R1019C;ENSP00000319318:R1077C;ENSP00000395039:R35C	ENSP00000319318:R1077C	R	+	1	0	STAG3	99640934	1.000000	0.71417	0.978000	0.43139	0.401000	0.30781	2.416000	0.44644	0.966000	0.38159	0.462000	0.41574	CGC		0.582	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		10	46	0	0	0	1	0	10	46				
FBXW7	55294	broad.mit.edu	37	4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	rs144247898		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:153244185G>A	ENST00000281708.4	-	12	3201	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		6	Substitution - Nonsense(5)|Unknown(1)	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1972-1974)Cga>Tga		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							167.0	164.0	165.0					4																	153244185		2203	4300	6503	SO:0001587	stop_gained	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244185G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1972C>T	4.37:g.153244185G>A	ENSP00000281708:p.Arg658*					FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*	p.R658*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			12	3201	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	658					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.1972C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698056	0.88830	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.67	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7715	15.907	0.79439	0.0:0.0:0.8635:0.1365	.	.	.	.	X	658;540;578;482	.	ENSP00000263981:R578X	R	-	1	2	FBXW7	153463635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.632000	0.74281	1.377000	0.46286	0.655000	0.94253	CGA		0.473	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			25	116	0	0	0	1	0	25	116				
MOCS1	4337	broad.mit.edu	37	6	39902041	39902041	+	Missense_Mutation	SNP	G	G	A	rs376634301		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:39902041G>A	ENST00000340692.5	-	1	119	c.116C>T	c.(115-117)gCc>gTc	p.A39V	MOCS1_ENST00000373188.2_Missense_Mutation_p.A39V|MOCS1_ENST00000308559.7_Missense_Mutation_p.A39V|MOCS1_ENST00000373195.3_5'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	39	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CACCTCCGAGGCAGCTCGCGC	0.726													G|||	1	0.000199681	0.0	0.0	5008	,	,		10241	0.001		0.0	False		,,,				2504	0.0				NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000308559.7																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(115-117)gCc>gTc		molybdenum cofactor synthesis 1							3.0	4.0	4.0					6																	39902041		1475	3446	4921	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39902041G>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.116C>T	6.37:g.39902041G>A	ENSP00000344794:p.Ala39Val					MOCS1_ENST00000340692.5_Missense_Mutation_p.A39V|MOCS1_ENST00000373188.2_Missense_Mutation_p.A39V|MOCS1_ENST00000373195.3_5'UTR	p.A39V			Q9NZB8	MOCS1_HUMAN			1	249	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		39			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.116C>T		.	.	.	.	.	.	.	.	.	.	G	16.60	3.168281	0.57476	.	.	ENSG00000124615	ENST00000308559;ENST00000373188;ENST00000340692	T;T	0.30714	1.52;1.53	4.94	2.04	0.26737	.	0.291399	0.26032	N	0.026744	T	0.03871	0.0109	N	0.08118	0	0.18873	N	0.999989	B	0.02656	0.0	B	0.06405	0.002	T	0.42783	-0.9431	9	.	.	.	-7.3479	5.9069	0.19006	0.0908:0.0:0.5753:0.3339	.	39	Q9NZB8-5	.	V	39	ENSP00000309843:A39V;ENSP00000344794:A39V	.	A	-	2	0	MOCS1	40010019	0.001000	0.12720	0.001000	0.08648	0.866000	0.49608	0.297000	0.19101	0.670000	0.31165	0.561000	0.74099	GCC		0.726	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		3	4	0	0	0	1	0	3	4				
MCM2	4171	broad.mit.edu	37	3	127323893	127323893	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:127323893G>A	ENST00000265056.7	+	4	811	c.567G>A	c.(565-567)gcG>gcA	p.A189A		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	189	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						TGAGCATGGCGGGCCCCCGGC	0.627																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(565-567)gcG>gcA		minichromosome maintenance complex component 2							72.0	74.0	73.0					3																	127323893		2203	4300	6503	SO:0001819	synonymous_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127323893G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.567G>A	3.37:g.127323893G>A							p.A189A	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			4	811	+			189			Interaction with MYST2 (By similarity).		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.567G>A	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403324	0.25291	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.17	-10.3	0.00346	.	.	.	.	.	T	0.58963	0.2159	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74551	-0.3628	4	.	.	.	-26.2768	14.233	0.65906	0.3277:0.5993:0.073:0.0	.	.	.	.	Q	52	.	.	R	+	2	0	MCM2	128806583	0.000000	0.05858	0.179000	0.23059	0.988000	0.76386	-4.903000	0.00172	-3.744000	0.00112	-0.340000	0.08031	CGG		0.627	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			32	111	0	0	0	1	0	32	111				
CORO1C	23603	broad.mit.edu	37	12	109051080	109051080	+	Splice_Site	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:109051080C>T	ENST00000261401.3	-	6	922	c.750G>A	c.(748-750)ccG>ccA	p.P250P	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Splice_Site_p.P250P|CORO1C_ENST00000549772.1_Splice_Site_p.P256P|CORO1C_ENST00000421578.2_Splice_Site_p.P145P|CORO1C_ENST00000420959.2_Splice_Site_p.P303P	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	250					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GAGGGCGTACCGGATTCCAGA	0.532																																						ENST00000261401.3																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						c.e6+1		coronin, actin binding protein, 1C							78.0	82.0	81.0					12																	109051080		2203	4300	6503	SO:0001630	splice_region_variant	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109051080C>T	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.750+1G>A	12.37:g.109051080C>T						CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Splice_Site_p.P250_splice|CORO1C_ENST00000549772.1_Splice_Site_p.P256_splice|CORO1C_ENST00000421578.2_Splice_Site_p.P145_splice|CORO1C_ENST00000420959.2_Splice_Site_p.P303_splice	p.P250_splice	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN			6	922	-			250					A7MAP0|A7MAP1|B3KU12|Q9NSK5	Splice_Site	SNP	ENST00000261401.3	37	c.750_splice	CCDS9120.1																																																																																				0.532	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325	Silent	23	112	0	0	0	1	0	23	112				
SLC10A2	6555	broad.mit.edu	37	13	103698602	103698602	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr13:103698602C>T	ENST00000245312.3	-	6	1524	c.928G>A	c.(928-930)Gca>Aca	p.A310T		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	310					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	TTCTTGTATGCCACATAAACT	0.328																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(928-930)Gca>Aca		solute carrier family 10 (sodium/bile acid cotransporter), member 2							89.0	79.0	82.0					13																	103698602		2203	4298	6501	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103698602C>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.928G>A	13.37:g.103698602C>T	ENSP00000245312:p.Ala310Thr						p.A310T	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			6	1524	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		310					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.928G>A	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	C	7.342	0.621083	0.14193	.	.	ENSG00000125255	ENST00000245312	T	0.08282	3.11	5.64	-2.02	0.07388	.	1.330000	0.04537	N	0.387336	T	0.05181	0.0138	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41342	-0.9514	10	0.10636	T	0.68	-4.8608	5.6645	0.17687	0.1384:0.3283:0.0:0.5332	.	310	Q12908	NTCP2_HUMAN	T	310	ENSP00000245312:A310T	ENSP00000245312:A310T	A	-	1	0	SLC10A2	102496603	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.335000	0.07873	-0.306000	0.08818	-0.145000	0.13849	GCA		0.328	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			3	26	0	0	0	1	0	3	26				
BCOR	54880	broad.mit.edu	37	X	39934190	39934190	+	Missense_Mutation	SNP	C	C	T	rs146403660	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:39934190C>T	ENST00000378444.4	-	4	637	c.409G>A	c.(409-411)Gtc>Atc	p.V137I	BCOR_ENST00000378455.4_Missense_Mutation_p.V137I|BCOR_ENST00000397354.3_Missense_Mutation_p.V137I|BCOR_ENST00000342274.4_Missense_Mutation_p.V137I	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	137					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTTCCAGAGACGGCAGAAGCC	0.512			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(409-411)Gtc>Atc		BCL6 corepressor		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	6,3827		0,5,1,1626,570	62.0	62.0	62.0		409,409,409,409	5.5	0.9	X	dbSNP_134	62	0,6728		0,0,0,2428,1872	no	missense,missense,missense,missense	BCOR	NM_001123383.1,NM_001123384.1,NM_001123385.1,NM_017745.5	29,29,29,29	0,5,1,4054,2442	TT,TC,T,CC,C		0.0,0.1565,0.0568	probably-damaging,probably-damaging,probably-damaging,probably-damaging	137/1722,137/1704,137/1756,137/1722	39934190	6,10555	2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39934190C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.409G>A	X.37:g.39934190C>T	ENSP00000367705:p.Val137Ile					BCOR_ENST00000397354.3_Missense_Mutation_p.V137I|BCOR_ENST00000378444.4_Missense_Mutation_p.V137I|BCOR_ENST00000378455.4_Missense_Mutation_p.V137I	p.V137I	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	771	-			137					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.409G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229230	0.58777	0.001565	0.0	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.47	5.47	0.80525	.	.	.	.	.	T	0.70404	0.3220	N	0.24115	0.695	0.29920	N	0.822801	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.994;0.987;0.994	T	0.68036	-0.5515	9	0.56958	D	0.05	-23.5215	11.857	0.52444	0.0:0.9179:0.0:0.0821	.	137;137;137;137	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	I	137	ENSP00000367716:V137I;ENSP00000380512:V137I;ENSP00000367705:V137I;ENSP00000345923:V137I;ENSP00000384485:V137I	ENSP00000345923:V137I	V	-	1	0	BCOR	39819134	0.993000	0.37304	0.882000	0.34594	0.906000	0.53458	2.821000	0.48065	2.277000	0.76020	0.600000	0.82982	GTC		0.512	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		4	102	0	0	0	1	0	4	102				
AP4E1	23431	broad.mit.edu	37	15	51233739	51233739	+	Silent	SNP	T	T	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:51233739T>G	ENST00000261842.5	+	9	1150	c.1044T>G	c.(1042-1044)ccT>ccG	p.P348P	AP4E1_ENST00000560508.1_Silent_p.P273P	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	348					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTCTGTCACCTAAAATAAATC	0.303																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(1042-1044)ccT>ccG		adaptor-related protein complex 4, epsilon 1 subunit							75.0	71.0	72.0					15																	51233739		2195	4292	6487	SO:0001819	synonymous_variant	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51233739T>G	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1044T>G	15.37:g.51233739T>G						AP4E1_ENST00000560508.1_Silent_p.P273P	p.P348P	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	9	1150	+			348					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	37	c.1044T>G	CCDS32240.1																																																																																				0.303	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			9	21	0	0	0	1	0	9	21				
EGFR	1956	broad.mit.edu	37	7	55259561	55259561	+	Silent	SNP	A	A	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:55259561A>C	ENST00000275493.2	+	21	2796	c.2619A>C	c.(2617-2619)ggA>ggC	p.G873G	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_Silent_p.G820G|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.G828G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	873	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> E (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G873G(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ATGCAGAAGGAGGCAAAGTAA	0.517		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - coding silent(1)	p.G873G(1)	oesophagus(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2617-2619)ggA>ggC		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						80.0	77.0	78.0					7																	55259561		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55259561A>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2619A>C	7.37:g.55259561A>C		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Silent_p.G820G|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.G828G	p.G873G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		21	2796	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		873		G -> E (found in a lung cancer sample).	Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.2619A>C	CCDS5514.1																																																																																				0.517	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		44	87	0	0	0	1	0	44	87				
KIDINS220	57498	broad.mit.edu	37	2	8952586	8952586	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:8952586C>T	ENST00000256707.3	-	6	624	c.443G>A	c.(442-444)gGc>gAc	p.G148D	KIDINS220_ENST00000473731.1_Missense_Mutation_p.G148D|KIDINS220_ENST00000319688.5_Missense_Mutation_p.G149D|KIDINS220_ENST00000418530.1_Missense_Mutation_p.G106D|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G148D	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	148					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATCTGCATGGCCTCTCCCTGC	0.428																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(442-444)gGc>gAc		kinase D-interacting substrate, 220kDa							110.0	103.0	105.0					2																	8952586		1980	4155	6135	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8952586C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.443G>A	2.37:g.8952586C>T	ENSP00000256707:p.Gly148Asp					KIDINS220_ENST00000319688.5_Missense_Mutation_p.G149D|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G148D|KIDINS220_ENST00000418530.1_Missense_Mutation_p.G106D|KIDINS220_ENST00000473731.1_Missense_Mutation_p.G148D	p.G148D	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			6	624	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		148					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.443G>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048156	0.93740	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.41	5.41	0.78517	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.86548	0.5959	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.88104	0.2821	10	0.87932	D	0	.	19.558	0.95361	0.0:1.0:0.0:0.0	.	149;106;148	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	D	148;148;106;148;149;149	ENSP00000256707:G148D;ENSP00000411849:G148D;ENSP00000414923:G106D;ENSP00000418974:G148D;ENSP00000419964:G149D;ENSP00000319947:G149D	ENSP00000256707:G148D	G	-	2	0	KIDINS220	8870037	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.398000	0.79919	2.697000	0.92050	0.655000	0.94253	GGC		0.428	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		14	37	0	0	0	1	0	14	37				
PRX	57716	broad.mit.edu	37	19	40902557	40902557	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:40902557G>A	ENST00000324001.7	-	7	1972	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	568	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTGGAAGCCGCACCTCTGGC	0.557																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1702-1704)Cgg>Tgg		periaxin							97.0	111.0	106.0					19																	40902557		2197	4295	6492	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902557G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1702C>T	19.37:g.40902557G>A	ENSP00000326018:p.Arg568Trp					PRX_ENST00000291825.7_3'UTR	p.R568W	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1972	-			568			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1702C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423472	0.25639	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02032	4.49	4.81	2.62	0.31277	.	0.774326	0.10944	N	0.616879	T	0.06188	0.0160	L	0.57536	1.79	0.09310	N	0.999999	D	0.69078	0.997	P	0.50708	0.648	T	0.34403	-0.9830	10	0.66056	D	0.02	.	12.6532	0.56774	0.0:0.0:0.699:0.301	.	568	Q9BXM0	PRAX_HUMAN	W	568	ENSP00000326018:R568W	ENSP00000326018:R568W	R	-	1	2	PRX	45594397	.	.	0.000000	0.03702	0.001000	0.01503	.	.	0.595000	0.29777	-0.182000	0.12963	CGG		0.557	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		5	320	0	0	0	1	0	5	320				
GATA3	2625	broad.mit.edu	37	10	8106041	8106041	+	Silent	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr10:8106041C>T	ENST00000346208.3	+	4	1316	c.861C>T	c.(859-861)tgC>tgT	p.C287C	GATA3_ENST00000379328.3_Silent_p.C288C|GATA3_ENST00000461472.1_Intron			P23771	GATA3_HUMAN	GATA binding protein 3	287					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCAACGCCTGCGGGCTCTATC	0.567			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(862-864)tgC>tgT		GATA binding protein 3							125.0	106.0	112.0					10																	8106041		2203	4300	6503	SO:0001819	synonymous_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8106041C>T	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.861C>T	10.37:g.8106041C>T						GATA3_ENST00000461472.1_Intron|GATA3_ENST00000346208.3_Silent_p.C287C	p.C288C	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			4	1432	+			287					Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	c.864C>T	CCDS7083.1																																																																																				0.567	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		29	98	0	0	0	1	0	29	98				
TRIM48	79097	broad.mit.edu	37	11	55036813	55036813	+	Nonstop_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:55036813G>T	ENST00000417545.2	+	5	760	c.674G>T	c.(673-675)tGa>tTa	p.*225L		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	0						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AACCAATTCTGAGGTAAGTCT	0.478																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(673-675)tGa>tTa		tripartite motif containing 48							53.0	41.0	45.0					11																	55036813		2102	3983	6085	SO:0001578	stop_lost	79097					intracellular	zinc ion binding	g.chr11:55036813G>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.674G>T	11.37:g.55036813G>T	ENSP00000402414:p.*225Leuext*167						p.*225L	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			5	760	+			0					Q9BUW4	Nonstop_Mutation	SNP	ENST00000417545.2	37	c.674G>T	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	g	0.021	-1.421220	0.01126	.	.	ENSG00000150244	ENST00000417545	.	.	.	0.596	0.596	0.17496	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	L	225	.	.	X	+	2	2	TRIM48	54793389	0.005000	0.15991	0.023000	0.16930	0.023000	0.10783	-0.425000	0.07017	0.629000	0.30376	0.413000	0.27773	TGA		0.478	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			9	43	1	0	1.12685e-05	1	1.17646e-05	9	43				
MAML3	55534	broad.mit.edu	37	4	140641035	140641035	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:140641035C>T	ENST00000509479.2	-	5	3715	c.2859G>A	c.(2857-2859)atG>atA	p.M953I	MGST2_ENST00000515137.1_Intron	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)					GGACTGTTCCCATAAGGCTCT	0.572																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(2857-2859)atG>atA		mastermind-like 3 (Drosophila)							61.0	65.0	64.0					4																	140641035		2030	4178	6208	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.chr4:140641035C>T	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.2859G>A	4.37:g.140641035C>T	ENSP00000421180:p.Met953Ile					MGST2_ENST00000515137.1_Intron	p.M953I	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			5	3715	-	all_hematologic(180;0.162)		949			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2859G>A	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286396	0.40494	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.26810	1.71	4.86	4.86	0.63082	.	0.054609	0.64402	D	0.000001	T	0.35158	0.0922	M	0.78637	2.42	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.006	T	0.22382	-1.0218	10	0.45353	T	0.12	.	18.3673	0.90396	0.0:1.0:0.0:0.0	.	953;949	E7EVW8;Q96JK9	.;MAML3_HUMAN	I	953;260	ENSP00000421180:M953I	ENSP00000421180:M953I	M	-	3	0	MAML3	140860485	1.000000	0.71417	0.999000	0.59377	0.518000	0.34316	4.754000	0.62191	2.401000	0.81631	0.591000	0.81541	ATG		0.572	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			24	79	0	0	0	1	0	24	79				
PHF20	51230	broad.mit.edu	37	20	34505570	34505570	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr20:34505570G>A	ENST00000374012.3	+	13	2119	c.1990G>A	c.(1990-1992)Gac>Aac	p.D664N	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	664					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GGAGGAAAATGACTTCATGAT	0.507																																						ENST00000374012.3																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1990-1992)Gac>Aac		PHD finger protein 20							101.0	83.0	89.0					20																	34505570		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34505570G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1990G>A	20.37:g.34505570G>A	ENSP00000363124:p.Asp664Asn					PHF20_ENST00000439301.1_3'UTR	p.D664N			Q9BVI0	PHF20_HUMAN			13	2119	+	Breast(12;0.00631)|all_lung(11;0.0145)		664					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.1990G>A	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311734	0.81358	.	.	ENSG00000025293	ENST00000374012;ENST00000420233	T	0.64260	-0.09	5.96	5.96	0.96718	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76526	-0.2927	10	0.36615	T	0.2	.	19.989	0.97359	0.0:0.0:1.0:0.0	.	664	Q9BVI0	PHF20_HUMAN	N	664;61	ENSP00000363124:D664N	ENSP00000363124:D664N	D	+	1	0	PHF20	33968984	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.766000	0.91728	2.830000	0.97506	0.585000	0.79938	GAC		0.507	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		11	32	0	0	0	1	0	11	32				
TMED10	10972	broad.mit.edu	37	14	75602474	75602474	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr14:75602474C>T	ENST00000303575.4	-	4	578	c.527G>A	c.(526-528)cGt>cAt	p.R176H	RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_5'UTR	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	176	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Required for TMED10 and TMED2 cis-Golgi network localization.				beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		GTTGGTATCACGCATCTCCTC	0.433																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.(526-528)cGt>cAt		transmembrane emp24-like trafficking protein 10 (yeast)							143.0	118.0	126.0					14																	75602474		2203	4300	6503	SO:0001583	missense	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75602474C>T	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.527G>A	14.37:g.75602474C>T	ENSP00000303145:p.Arg176His					TMED10_ENST00000557670.1_5'UTR|RP11-950C14.7_ENST00000556236.1_RNA	p.R176H	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	4	578	-			176			GOLD.		B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Missense_Mutation	SNP	ENST00000303575.4	37	c.527G>A	CCDS9840.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355073	0.95854	.	.	ENSG00000170348	ENST00000303575	T	0.24908	1.83	5.85	5.85	0.93711	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.75551	-0.3278	10	0.72032	D	0.01	-13.5865	20.1736	0.98170	0.0:1.0:0.0:0.0	.	176	P49755	TMEDA_HUMAN	H	176	ENSP00000303145:R176H	ENSP00000303145:R176H	R	-	2	0	TMED10	74672227	1.000000	0.71417	0.966000	0.40874	0.866000	0.49608	7.442000	0.80503	2.767000	0.95098	0.557000	0.71058	CGT		0.433	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827		17	44	0	0	0	1	0	17	44				
CHRNA4	1137	broad.mit.edu	37	20	61982102	61982102	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr20:61982102T>C	ENST00000370263.4	-	5	882	c.661A>G	c.(661-663)Agg>Ggg	p.R221G	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	221					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TCGTACTTCCTGGTGTTGTAG	0.592																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(661-663)Agg>Ggg		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						189.0	145.0	160.0					20																	61982102		2203	4300	6503	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61982102T>C		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.661A>G	20.37:g.61982102T>C	ENSP00000359285:p.Arg221Gly					CHRNA4_ENST00000463705.1_5'UTR	p.R221G	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	882	-	all_cancers(38;1.71e-10)		221					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.661A>G	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.871320	0.51695	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.79352	-1.26	4.77	-1.15	0.09709	Neurotransmitter-gated ion-channel ligand-binding (3);	0.092329	0.64402	D	0.000003	T	0.80319	0.4601	M	0.81341	2.54	0.29697	N	0.84045	P;P	0.43231	0.801;0.483	P;B	0.46419	0.516;0.345	T	0.78414	-0.2213	10	0.48119	T	0.1	.	14.4209	0.67183	0.0:0.0:0.5954:0.4046	.	150;221	Q4VAQ5;P43681	.;ACHA4_HUMAN	G	127;221;150	ENSP00000359285:R221G	ENSP00000359280:R127G	R	-	1	2	CHRNA4	61452546	0.997000	0.39634	0.103000	0.21229	0.883000	0.51084	0.953000	0.29162	-0.589000	0.05874	0.459000	0.35465	AGG		0.592	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			29	91	0	0	0	1	0	29	91				
CYP4F3	4051	broad.mit.edu	37	19	15770152	15770152	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:15770152G>A	ENST00000221307.8	+	13	1567	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	CYP4F3_ENST00000586182.2_Missense_Mutation_p.R507H|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R507H|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R507H	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	507					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTGGTCCTGCGCGCAGAGGGC	0.637																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(1519-1521)cGc>cAc		cytochrome P450, family 4, subfamily F, polypeptide 3							12.0	13.0	13.0					19																	15770152		2196	4280	6476	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15770152G>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1520G>A	19.37:g.15770152G>A	ENSP00000221307:p.Arg507His					CYP4F3_ENST00000591058.1_Missense_Mutation_p.R507H|CYP4F3_ENST00000586182.1_Missense_Mutation_p.R507H|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R507H	p.R507H	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			13	1568	+			507					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.1520G>A	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	19.01	3.744801	0.69418	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.79845	-1.31	3.48	3.48	0.39840	.	0.000000	0.56097	U	0.000027	D	0.87853	0.6282	M	0.82923	2.615	0.54753	D	0.999983	P;D;D	0.60160	0.798;0.987;0.987	B;P;P	0.60609	0.44;0.877;0.877	D	0.89491	0.3757	10	0.66056	D	0.02	.	12.5159	0.56032	0.0:0.0:1.0:0.0	.	217;507;507	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	H	434;507	ENSP00000221307:R507H	ENSP00000221307:R507H	R	+	2	0	CYP4F3	15631152	1.000000	0.71417	0.938000	0.37757	0.439000	0.31926	8.500000	0.90498	1.773000	0.52216	0.305000	0.20034	CGC		0.637	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		8	31	0	0	0	1	0	8	31				
ARMC3	219681	broad.mit.edu	37	10	23290888	23290888	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr10:23290888T>C	ENST00000298032.5	+	12	1550	c.1466T>C	c.(1465-1467)cTa>cCa	p.L489P	ARMC3_ENST00000409049.3_Missense_Mutation_p.L489P|ARMC3_ENST00000409983.3_Missense_Mutation_p.L489P|ARMC3_ENST00000376528.4_Missense_Mutation_p.L226P	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	489						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAGAGCTGCTACGCTCCAAG	0.463																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1465-1467)cTa>cCa		armadillo repeat containing 3							105.0	95.0	99.0					10																	23290888		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23290888T>C	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1466T>C	10.37:g.23290888T>C	ENSP00000298032:p.Leu489Pro					ARMC3_ENST00000409983.3_Missense_Mutation_p.L489P|ARMC3_ENST00000409049.3_Missense_Mutation_p.L489P|ARMC3_ENST00000376528.4_Missense_Mutation_p.L226P	p.L489P	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			12	1550	+			489					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1466T>C	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.115487	0.56505	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.289684	0.33753	N	0.004597	D	0.92374	0.7580	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.93183	0.6576	10	0.87932	D	0	-11.9789	16.3362	0.83062	0.0:0.0:0.0:1.0	.	489;489	Q5W041-4;Q5W041	.;ARMC3_HUMAN	P	489;489;425;489;226	ENSP00000298032:L489P;ENSP00000386943:L489P;ENSP00000387288:L489P;ENSP00000365711:L226P	ENSP00000298032:L489P	L	+	2	0	ARMC3	23330894	1.000000	0.71417	0.966000	0.40874	0.078000	0.17371	6.498000	0.73679	2.256000	0.74724	0.533000	0.62120	CTA		0.463	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		11	37	0	0	0	1	0	11	37				
AMPD2	271	broad.mit.edu	37	1	110168331	110168331	+	Silent	SNP	G	G	A	rs139217835		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:110168331G>A	ENST00000256578.3	+	3	792	c.432G>A	c.(430-432)ccG>ccA	p.P144P	AMPD2_ENST00000528667.1_Silent_p.P144P|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528454.1_Silent_p.P26P|AMPD2_ENST00000393688.3_Silent_p.P25P|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Silent_p.P63P|AMPD2_ENST00000358729.4_Silent_p.P69P	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	144					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTAGTGCCCCGTATGAGTTCC	0.672																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(430-432)ccG>ccA		adenosine monophosphate deaminase 2							48.0	56.0	54.0					1																	110168331		2203	4300	6503	SO:0001819	synonymous_variant	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110168331G>A	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.432G>A	1.37:g.110168331G>A						AMPD2_ENST00000342115.4_Silent_p.P63P|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Silent_p.P25P|AMPD2_ENST00000358729.4_Silent_p.P69P|AMPD2_ENST00000528667.1_Silent_p.P144P|AMPD2_ENST00000528454.1_Silent_p.P26P	p.P144P	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	3	792	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	144					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Silent	SNP	ENST00000256578.3	37	c.432G>A	CCDS805.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279085	0.23307	.	.	ENSG00000116337	ENST00000369840	.	.	.	4.84	-9.67	0.00531	.	.	.	.	.	T	0.15003	0.0362	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40683	-0.9550	4	.	.	.	-29.7627	0.8972	0.01266	0.374:0.2461:0.1089:0.271	.	.	.	.	I	115	.	.	V	+	1	0	AMPD2	109969854	0.000000	0.05858	0.399000	0.26333	0.990000	0.78478	-3.792000	0.00365	-2.569000	0.00469	0.462000	0.41574	GTA		0.672	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			36	80	0	0	0	1	0	36	80				
ZNF773	374928	broad.mit.edu	37	19	58024429	58024429	+	Missense_Mutation	SNP	G	G	A	rs370028083		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:58024429G>A	ENST00000599847.1	+	5	489	c.347G>A	c.(346-348)cGt>cAt	p.R116H	ZNF773_ENST00000593916.1_Missense_Mutation_p.R100H			Q6PK81	ZN773_HUMAN	zinc finger protein 773	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(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GAACAGggacgtgagtgaaga	0.493																																						ENST00000599847.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(346-348)cGt>cAt		zinc finger protein 773		A		1,3135		0,1,1567	28.0	30.0	29.0				0.1	19		29	1,7163		0,1,3581	no	intergenic				0,2,5148	AA,AG,GG		0.014,0.0319,0.0194			58024429	2,10298	1568	3582	5150	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58024429G>A	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000599847.1:c.347G>A	19.37:g.58024429G>A	ENSP00000468846:p.Arg116His					ZNF773_ENST00000593916.1_Missense_Mutation_p.R100H	p.R116H			Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	5	489	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	0					Q96DL8	Missense_Mutation	SNP	ENST00000599847.1	37	c.347G>A		.	.	.	.	.	.	.	.	.	.	g	0.797	-0.756828	0.03019	3.19E-4	1.4E-4	ENSG00000152439	ENST00000332030	.	.	.	.	.	.	.	.	.	.	.	T	0.31918	0.0812	.	.	.	.	.	.	.	.	.	.	.	.	T	0.36138	-0.9760	2	0.72032	D	0.01	.	.	.	.	.	.	.	.	H	139	.	ENSP00000329020:R139H	R	+	2	0	ZNF773	62716241	0.061000	0.20836	0.056000	0.19401	0.057000	0.15508	-1.391000	0.02525	-1.702000	0.01411	-1.713000	0.00713	CGT		0.493	ZNF773-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000466474.1	NM_198542		5	12	0	0	0	1	0	5	12				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	33	0	0	0	1	0	3	33				
GRIN3B	116444	broad.mit.edu	37	19	1003546	1003546	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:1003546G>A	ENST00000234389.3	+	2	863	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	282					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTGGCGCTGGGCGAGGTGGC	0.741																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(844-846)Ggc>Agc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						2.0	3.0	3.0					19																	1003546		1740	3579	5319	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1003546G>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.844G>A	19.37:g.1003546G>A	ENSP00000234389:p.Gly282Ser						p.G282S	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	863	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	282					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.844G>A	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	g	14.58	2.578373	0.45902	.	.	ENSG00000116032	ENST00000234389	T	0.12255	2.7	4.05	4.05	0.47172	.	0.118141	0.56097	U	0.000026	T	0.32852	0.0843	M	0.73962	2.25	0.44092	D	0.996857	D	0.89917	1.0	D	0.91635	0.999	T	0.20075	-1.0286	10	0.11485	T	0.65	.	13.7826	0.63091	0.0:0.0:1.0:0.0	.	282	O60391	NMD3B_HUMAN	S	282	ENSP00000234389:G282S	ENSP00000234389:G282S	G	+	1	0	GRIN3B	954546	1.000000	0.71417	0.755000	0.31263	0.093000	0.18481	7.386000	0.79775	1.814000	0.52955	0.473000	0.43528	GGC		0.741	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			3	3	0	0	0	1	0	3	3				
KCNJ2	3759	broad.mit.edu	37	17	68172048	68172048	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:68172048G>A	ENST00000243457.3	+	2	1251	c.868G>A	c.(868-870)Gca>Aca	p.A290T	KCNJ2_ENST00000535240.1_Missense_Mutation_p.A290T	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	290					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.A290T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CATTGACAACGCAGACTTTGA	0.438																																						ENST00000243457.3																			1	Substitution - Missense(1)	p.A290T(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25						c.(868-870)Gca>Aca		potassium inwardly-rectifying channel, subfamily J, member 2							80.0	81.0	81.0					17																	68172048		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68172048G>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.868G>A	17.37:g.68172048G>A	ENSP00000243457:p.Ala290Thr					KCNJ2_ENST00000535240.1_Missense_Mutation_p.A290T	p.A290T	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	1251	+	Breast(10;1.64e-08)		290					O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.868G>A	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491699	0.44249	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.93953	-3.32;-3.32	5.77	5.77	0.91146	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.051900	0.85682	D	0.000000	D	0.92401	0.7588	L	0.53671	1.685	0.44117	D	0.996894	B	0.29835	0.258	B	0.38655	0.278	D	0.89063	0.3464	9	.	.	.	.	15.1221	0.72453	0.0:0.0:0.8586:0.1414	.	290	P63252	IRK2_HUMAN	T	290	ENSP00000441848:A290T;ENSP00000243457:A290T	.	A	+	1	0	KCNJ2	65683643	1.000000	0.71417	0.979000	0.43373	0.951000	0.60555	5.837000	0.69381	2.885000	0.99019	0.655000	0.94253	GCA		0.438	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		4	105	0	0	0	1	0	4	105				
ZSCAN5A	79149	broad.mit.edu	37	19	56735007	56735007	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:56735007C>T	ENST00000587340.1	-	5	1276	c.581G>A	c.(580-582)aGg>aAg	p.R194K	ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R194K|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R194K|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R48K|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R77K			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	194					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)	p.R194M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CACCTGCCTCCTGGACAATGC	0.612																																						ENST00000587340.1																			1	Substitution - Missense(1)	p.R194M(1)	lung(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(580-582)aGg>aAg		zinc finger and SCAN domain containing 5A							46.0	42.0	43.0					19																	56735007		2203	4300	6503	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56735007C>T	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.581G>A	19.37:g.56735007C>T	ENSP00000467631:p.Arg194Lys					ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R194K|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R194K|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R48K|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R77K	p.R194K			Q9BUG6	ZSA5A_HUMAN			5	1276	-			194					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.581G>A	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249352	0.22880	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.08193	3.29;3.12	2.81	-2.78	0.05859	.	.	.	.	.	T	0.08403	0.0209	M	0.79475	2.455	0.09310	N	1	B;B	0.34015	0.435;0.435	B;B	0.27262	0.078;0.054	T	0.22836	-1.0205	9	0.42905	T	0.14	.	3.0539	0.06177	0.1566:0.4069:0.3284:0.1081	.	77;194	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	K	194;77	ENSP00000375593:R194K;ENSP00000254165:R77K	ENSP00000254165:R77K	R	-	2	0	ZSCAN5A	61426819	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.422000	0.02453	-0.403000	0.07622	-0.182000	0.12963	AGG		0.612	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		8	29	0	0	0	1	0	8	29				
MDC1	9656	broad.mit.edu	37	6	30681756	30681756	+	Missense_Mutation	SNP	C	C	T	rs61748587		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:30681756C>T	ENST00000376406.3	-	3	988	c.341G>A	c.(340-342)cGt>cAt	p.R114H	MDC1_ENST00000376405.2_Missense_Mutation_p.R114H|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	114	Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GTCCCTCAGACGGTGACTCAC	0.547								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(340-342)cGt>cAt	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							80.0	77.0	78.0					6																	30681756		1511	2709	4220	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30681756C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.341G>A	6.37:g.30681756C>T	ENSP00000365588:p.Arg114His					MDC1_ENST00000376405.2_Missense_Mutation_p.R114H	p.R114H	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			3	988	-			114			Interaction with CHEK2.|Interaction with the MRN complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.341G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587745	0.66105	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000435797;ENST00000452213;ENST00000416571;ENST00000425072	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.68	4.62	0.57501	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.211852	0.24120	N	0.041367	D	0.90342	0.6978	M	0.65975	2.015	0.27820	N	0.941812	D	0.89917	1.0	D	0.68621	0.959	D	0.84350	0.0532	10	0.66056	D	0.02	-5.3362	10.3994	0.44220	0.0:0.8978:0.0:0.1022	rs61748587	114	Q14676	MDC1_HUMAN	H	114	ENSP00000365588:R114H;ENSP00000365587:R114H;ENSP00000400979:R114H;ENSP00000396989:R114H	ENSP00000365587:R114H	R	-	2	0	MDC1	30789735	0.994000	0.37717	1.000000	0.80357	0.984000	0.73092	0.873000	0.28052	2.671000	0.90904	0.650000	0.86243	CGT		0.547	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		19	51	0	0	0	1	0	19	51				
APEH	327	broad.mit.edu	37	3	49723545	49723545	+	IGR	SNP	G	G	A	rs4052562		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:49723545G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Missense_Mutation_p.A366V|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAAAAGGCCGCGCGCATGCC	0.667																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1096-1098)gCg>gTg		macrophage stimulating 1 (hepatocyte growth factor-like)							13.0	16.0	15.0					3																	49723545		2196	4290	6486	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723545G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723545G>A						MST1_ENST00000383728.3_3'UTR	p.A366V	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1458	-			352					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1097C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	A	6.330	0.429012	0.11987	.	.	ENSG00000173531	ENST00000449682	T	0.61510	0.1	5.4	2.9	0.33743	.	0.872863	0.09498	N	0.793992	T	0.22322	0.0538	N	0.01048	-1.04	0.58432	D	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.34129	-0.9841	10	0.02654	T	1	.	6.4095	0.21682	0.7107:0.0:0.0698:0.2196	rs4052562	366	G3XAK1	.	V	366	ENSP00000414287:A366V	ENSP00000414287:A366V	A	-	2	0	MST1	49698549	1.000000	0.71417	0.233000	0.24025	0.897000	0.52465	4.372000	0.59530	0.016000	0.14998	-0.254000	0.11334	GCG		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	35	0	0	0	1	0	3	35				
RICTOR	253260	broad.mit.edu	37	5	38955713	38955713	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:38955713G>A	ENST00000357387.3	-	26	2623	c.2593C>T	c.(2593-2595)Cgt>Tgt	p.R865C	RICTOR_ENST00000296782.5_Missense_Mutation_p.R865C|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTACTCCGACGAACATAGTTA	0.353																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(2593-2595)Cgt>Tgt		RPTOR independent companion of MTOR, complex 2							165.0	157.0	160.0					5																	38955713		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38955713G>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2593C>T	5.37:g.38955713G>A	ENSP00000349959:p.Arg865Cys					RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Missense_Mutation_p.R865C	p.R865C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			26	2623	-	all_lung(31;0.000396)		865						Missense_Mutation	SNP	ENST00000357387.3	37	c.2593C>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619679	0.87460	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.77620	-1.11;0.68	5.64	5.64	0.86602	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88926	0.6570	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.89587	0.3825	10	0.87932	D	0	-10.9279	19.6864	0.95981	0.0:0.0:1.0:0.0	.	865;865	Q6R327;Q6R327-3	RICTR_HUMAN;.	C	865	ENSP00000349959:R865C;ENSP00000296782:R865C	ENSP00000296782:R865C	R	-	1	0	RICTOR	38991470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.991000	0.56973	2.646000	0.89796	0.650000	0.86243	CGT		0.353	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		18	88	0	0	0	1	0	18	88				
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:16285788C>T	ENST00000395837.1	+	2	748	c.567C>T	c.(565-567)ccC>ccT	p.P189P	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.P189P|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.P113P	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			1	Substitution - coding silent(1)	p.P189P(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(565-567)ccC>ccT		ubiquitin B							55.0	59.0	58.0					17																	16285788		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285788C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.567C>T	17.37:g.16285788C>T						UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000395837.1_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA	p.P189P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	959	+			189			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.567C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	83	0	0	0	1	0	4	83				
NRXN3	9369	broad.mit.edu	37	14	80130227	80130227	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr14:80130227C>A	ENST00000557594.1	+	3	1489	c.536C>A	c.(535-537)aCc>aAc	p.T179N	RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.T811N|NRXN3_ENST00000554719.1_Missense_Mutation_p.T811N|NRXN3_ENST00000428277.2_Missense_Mutation_p.T179N|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Missense_Mutation_p.T179N	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	179	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTACGCTTCACCAGGAACGGC	0.483																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(535-537)aCc>aAc		neurexin 3							131.0	114.0	120.0					14																	80130227		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80130227C>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.536C>A	14.37:g.80130227C>A	ENSP00000451672:p.Thr179Asn					RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Missense_Mutation_p.T811N|NRXN3_ENST00000557594.1_Missense_Mutation_p.T179N|NRXN3_ENST00000335750.5_Missense_Mutation_p.T811N|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.T179N	p.T179N	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	3	1415	+		Renal(4;0.00876)	179			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.536C>A		.	.	.	.	.	.	.	.	.	.	C	33	5.267890	0.95399	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.78924	-1.22;-1.22;0.78;0.78;0.78	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.86573	2.825	0.58432	D	0.999998	P;P;P;P	0.49307	0.922;0.891;0.836;0.562	P;P;P;B	0.61940	0.809;0.882;0.896;0.307	D	0.89215	0.3567	9	.	.	.	.	20.047	0.97613	0.0:1.0:0.0:0.0	.	179;179;179;811	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	N	1184;1173;811;811;179;179;179	ENSP00000451648:T811N;ENSP00000338349:T811N;ENSP00000451672:T179N;ENSP00000281127:T179N;ENSP00000394426:T179N	.	T	+	2	0	NRXN3	79199980	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.759000	0.85235	2.802000	0.96397	0.563000	0.77884	ACC		0.483	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		11	32	1	0	5.50884e-06	1	5.78777e-06	11	32				
SPTBN4	57731	broad.mit.edu	37	19	40996096	40996096	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:40996096G>A	ENST00000352632.3	+	4	522	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	SPTBN4_ENST00000344104.3_Missense_Mutation_p.V146M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.V146M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.V146M|SPTBN4_ENST00000598249.1_Missense_Mutation_p.V146M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	146	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCATGACATCGTGGATGGGAA	0.632																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(436-438)Gtg>Atg		spectrin, beta, non-erythrocytic 4							118.0	96.0	103.0					19																	40996096		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40996096G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.436G>A	19.37:g.40996096G>A	ENSP00000263373:p.Val146Met					SPTBN4_ENST00000344104.3_Missense_Mutation_p.V146M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.V146M|SPTBN4_ENST00000598249.1_Missense_Mutation_p.V146M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.V146M	p.V146M			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		4	522	+			146			Actin-binding.|CH 1.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.436G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505505	0.85282	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.64991	-0.13;-0.13;-0.13	4.76	4.76	0.60689	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.51477	U	0.000094	D	0.84247	0.5430	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.91;1.0	D	0.88700	0.3215	10	0.87932	D	0	.	16.6882	0.85315	0.0:0.0:1.0:0.0	.	146;146	Q9H254;Q71S06	SPTN4_HUMAN;.	M	146	ENSP00000263373:V146M;ENSP00000340345:V146M;ENSP00000340741:V146M	ENSP00000340345:V146M	V	+	1	0	SPTBN4	45687936	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	9.586000	0.98226	2.459000	0.83118	0.579000	0.79373	GTG		0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			9	60	0	0	0	1	0	9	60				
EPB41L4B	54566	broad.mit.edu	37	9	111956584	111956584	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:111956584G>A	ENST00000374566.3	-	21	2656	c.2139C>T	c.(2137-2139)tcC>tcT	p.S713S	RNU6-984P_ENST00000363236.1_RNA	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	713					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGCGGCACGGAGACTTGTG	0.612																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2137-2139)tcC>tcT		erythrocyte membrane protein band 4.1 like 4B							122.0	145.0	138.0					9																	111956584		2038	4189	6227	SO:0001819	synonymous_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111956584G>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2139C>T	9.37:g.111956584G>A							p.S713S	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			21	2656	-			713					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	c.2139C>T	CCDS43859.1																																																																																				0.612	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		6	146	0	0	0	1	0	6	146				
TLK1	9874	broad.mit.edu	37	2	171850363	171850363	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:171850363G>T	ENST00000431350.2	-	21	2632	c.2228C>A	c.(2227-2229)tCt>tAt	p.S743Y	TLK1_ENST00000360843.3_Missense_Mutation_p.S764Y|TLK1_ENST00000442919.2_Missense_Mutation_p.S695Y|TLK1_ENST00000434911.2_Missense_Mutation_p.S647Y|TLK1_ENST00000521943.1_Missense_Mutation_p.S695Y			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	743					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GTTTCCTGAAGAATTTGATCT	0.438																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(2083-2085)tCt>tAt		tousled-like kinase 1							163.0	149.0	154.0					2																	171850363		2203	4300	6503	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171850363G>T	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.2228C>A	2.37:g.171850363G>T	ENSP00000411099:p.Ser743Tyr					TLK1_ENST00000521943.1_Missense_Mutation_p.S695Y|TLK1_ENST00000431350.2_Missense_Mutation_p.S743Y|TLK1_ENST00000434911.2_Missense_Mutation_p.S647Y|TLK1_ENST00000360843.3_Missense_Mutation_p.S764Y	p.S695Y	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN			21	2699	-			743			Protein kinase.		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.2084C>A	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786473	0.70337	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.61	5.61	0.85477	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	N	0.19112	0.55	0.80722	D	1	P;D;D	0.59357	0.904;0.98;0.985	P;P;P	0.61592	0.707;0.891;0.781	T	0.11036	-1.0604	10	0.48119	T	0.1	-25.8632	19.6554	0.95833	0.0:0.0:1.0:0.0	.	647;764;743	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	Y	695;743;764;695;647	ENSP00000402165:S695Y;ENSP00000411099:S743Y;ENSP00000354089:S764Y;ENSP00000428113:S695Y;ENSP00000409222:S647Y	ENSP00000354089:S764Y	S	-	2	0	TLK1	171558609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.650000	0.89964	0.650000	0.86243	TCT		0.438	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		36	73	1	0	4.62619e-21	1	5.11965e-21	36	73				
ATP13A2	23400	broad.mit.edu	37	1	17314721	17314721	+	Missense_Mutation	SNP	C	C	T	rs564643512		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:17314721C>T	ENST00000326735.8	-	25	2804	c.2771G>A	c.(2770-2772)cGc>cAc	p.R924H	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.R880H|ATP13A2_ENST00000452699.1_Missense_Mutation_p.R919H			Q9NQ11	AT132_HUMAN	ATPase type 13A2	924					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AAGGGAACAGCGCCCCTCCCT	0.602																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2755-2757)cGc>cAc		ATPase type 13A2							131.0	119.0	123.0					1																	17314721		2203	4300	6503	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17314721C>T	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2771G>A	1.37:g.17314721C>T	ENSP00000327214:p.Arg924His					ATP13A2_ENST00000341676.5_Missense_Mutation_p.R880H|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R924H	p.R919H	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	25	2945	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	924					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.2756G>A	CCDS175.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018927	0.93404	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000502418	D;D;D;D	0.98362	-4.4;-4.4;-4.4;-4.89	5.24	5.24	0.73138	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	M	0.91038	3.17	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.99387	1.0924	10	0.87932	D	0	-27.6834	14.3264	0.66523	0.0:1.0:0.0:0.0	.	880;919;924	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	H	924;880;919;120	ENSP00000327214:R924H;ENSP00000341115:R880H;ENSP00000413307:R919H;ENSP00000423065:R120H	ENSP00000327214:R924H	R	-	2	0	ATP13A2	17187308	1.000000	0.71417	0.997000	0.53966	0.714000	0.41099	5.684000	0.68197	2.448000	0.82819	0.561000	0.74099	CGC		0.602	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		22	86	0	0	0	1	0	22	86				
F3	2152	broad.mit.edu	37	1	95007178	95007178	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:95007178G>A	ENST00000334047.7	-	1	178	c.15C>T	c.(13-15)gcC>gcT	p.A5A	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Silent_p.A5A	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	5					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CCCGGGGCCAGGCAGGGGTCT	0.741																																					Melanoma(40;358 1339 15970 39161)	ENST00000334047.7																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14						c.(13-15)gcC>gcT		coagulation factor III (thromboplastin, tissue factor)	Coagulation factor VIIa(DB00036)						6.0	10.0	9.0					1																	95007178		2077	4159	6236	SO:0001819	synonymous_variant	2152				activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding	g.chr1:95007178G>A	BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"""CD molecules"""	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.15C>T	1.37:g.95007178G>A						F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Silent_p.A5A	p.A5A	NM_001993.4	NP_001984.1	P13726	TF_HUMAN		all cancers(265;0.0232)|Epithelial(280;0.121)	1	178	-		all_lung(203;0.00106)|Lung NSC(277;0.00475)	5					D3DT47|Q6FHG2|Q86WH4	Silent	SNP	ENST00000334047.7	37	c.15C>T	CCDS750.1																																																																																				0.741	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029593.1	NM_001993		3	15	0	0	0	1	0	3	15				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		27	22	0	0	0	1	0	27	22				
SIPA1L2	57568	broad.mit.edu	37	1	232574963	232574963	+	Missense_Mutation	SNP	C	C	T	rs576412635		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:232574963C>T	ENST00000366630.1	-	14	4280	c.3922G>A	c.(3922-3924)Gac>Aac	p.D1308N	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D1308N|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.D382N			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1308				D -> V (in Ref. 2; BAB14273). {ECO:0000305}.	regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCTGGCTCGTCGTCAGGCCCA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17744	0.0		0.001	False		,,,				2504	0.0					ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(3922-3924)Gac>Aac		signal-induced proliferation-associated 1 like 2							36.0	40.0	38.0					1																	232574963		2074	4218	6292	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232574963C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3922G>A	1.37:g.232574963C>T	ENSP00000355589:p.Asp1308Asn					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D1308N|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.D382N	p.D1308N			Q9P2F8	SI1L2_HUMAN			14	4280	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1308	D -> V (in Ref. 2; BAB14273).				Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.3922G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880637	0.33255	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.78595	-1.19;-1.19;2.76	5.29	5.29	0.74685	.	0.781535	0.12128	N	0.497043	T	0.72269	0.3439	L	0.39898	1.24	0.23101	N	0.9983	B;P	0.43909	0.256;0.821	B;B	0.38616	0.049;0.277	T	0.66404	-0.5932	10	0.39692	T	0.17	-16.8959	17.2889	0.87150	0.0:1.0:0.0:0.0	.	1308;382	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	N	1308;1308;382	ENSP00000355589:D1308N;ENSP00000262861:D1308N;ENSP00000309102:D382N	ENSP00000262861:D1308N	D	-	1	0	SIPA1L2	230641586	0.962000	0.33011	0.057000	0.19452	0.417000	0.31264	2.922000	0.48860	2.752000	0.94435	0.655000	0.94253	GAC		0.637	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		21	58	0	0	0	1	0	21	58				
OR2T33	391195	broad.mit.edu	37	1	248436658	248436658	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:248436658G>A	ENST00000318021.2	-	1	480	c.459C>T	c.(457-459)gaC>gaT	p.D153D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAGGAGCCCGTCAGCTGCAC	0.587																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(457-459)gaC>gaT		olfactory receptor, family 2, subfamily T, member 33							107.0	102.0	104.0					1																	248436658		2203	4300	6503	SO:0001819	synonymous_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436658G>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.459C>T	1.37:g.248436658G>A							p.D153D	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	480	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		153					B2RNN0	Silent	SNP	ENST00000318021.2	37	c.459C>T	CCDS31109.1																																																																																				0.587	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		23	174	0	0	0	1	0	23	174				
WTAP	9589	broad.mit.edu	37	6	160176437	160176437	+	Missense_Mutation	SNP	G	G	A	rs373161821		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:160176437G>A	ENST00000358372.4	+	8	2742	c.985G>A	c.(985-987)Gta>Ata	p.V329I	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	329					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TAGTGGTTACGTAAATCAACT	0.493																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(985-987)Gta>Ata		Wilms tumor 1 associated protein		G	ILE/VAL	0,4406		0,0,2203	109.0	99.0	103.0		985	1.8	1.0	6		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	WTAP	NM_004906.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	329/397	160176437	1,13005	2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160176437G>A	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.985G>A	6.37:g.160176437G>A	ENSP00000351141:p.Val329Ile					SOD2_ENST00000546087.1_Intron	p.V329I	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	8	2742	+		Breast(66;0.000776)|Ovarian(120;0.0303)	329					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.985G>A	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	G	2.889	-0.230012	0.06022	0.0	1.16E-4	ENSG00000146457	ENST00000358372	T	0.44482	0.92	6.17	1.77	0.24775	.	0.525534	0.22843	N	0.054960	T	0.07413	0.0187	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16808	-1.0390	10	0.15499	T	0.54	-2.0175	8.1751	0.31276	0.5454:0.0:0.4546:0.0	.	329;329	A8K489;Q15007	.;FL2D_HUMAN	I	329	ENSP00000351141:V329I	ENSP00000351141:V329I	V	+	1	0	WTAP	160096427	0.998000	0.40836	0.992000	0.48379	0.972000	0.66771	0.619000	0.24388	0.436000	0.26393	-0.136000	0.14681	GTA		0.493	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		17	63	0	0	0	1	0	17	63				
LIPE	3991	broad.mit.edu	37	19	42930829	42930829	+	Missense_Mutation	SNP	G	G	A	rs138508614		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:42930829G>A	ENST00000244289.4	-	1	749	c.473C>T	c.(472-474)gCg>gTg	p.A158V	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	158					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGCCTGGGCCGCAGGTGTTGA	0.562																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(472-474)gCg>gTg		lipase, hormone-sensitive		G	VAL/ALA	0,4406		0,0,2203	92.0	90.0	90.0		473	-4.3	0.0	19	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	LIPE	NM_005357.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	158/1077	42930829	1,13005	2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42930829G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.473C>T	19.37:g.42930829G>A	ENSP00000244289:p.Ala158Val					LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA	p.A158V	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			1	749	-		Prostate(69;0.00682)	158					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.473C>T	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	6.258	0.415751	0.11870	0.0	1.16E-4	ENSG00000079435	ENST00000244289	T	0.23552	1.9	3.85	-4.28	0.03732	.	1.437190	0.04845	N	0.441266	T	0.10121	0.0248	N	0.11927	0.2	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.23440	-1.0188	10	0.07644	T	0.81	0.951	2.89	0.05674	0.227:0.2142:0.4484:0.1104	.	158	Q05469	LIPS_HUMAN	V	158	ENSP00000244289:A158V	ENSP00000244289:A158V	A	-	2	0	LIPE	47622669	0.007000	0.16637	0.000000	0.03702	0.011000	0.07611	-0.147000	0.10234	-1.056000	0.03205	-0.808000	0.03180	GCG		0.562	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		19	80	0	0	0	1	0	19	80				
HIP1	3092	broad.mit.edu	37	7	75182847	75182847	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:75182847C>T	ENST00000336926.6	-	22	2226	c.2200G>A	c.(2200-2202)Gcc>Acc	p.A734T	HIP1_ENST00000434438.2_Missense_Mutation_p.A734T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	734					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCAGGTAGGCGAGGGTTTCC	0.547			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2200-2202)Gcc>Acc		huntingtin interacting protein 1							88.0	72.0	78.0					7																	75182847		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75182847C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2200G>A	7.37:g.75182847C>T	ENSP00000336747:p.Ala734Thr					HIP1_ENST00000434438.2_Missense_Mutation_p.A734T	p.A734T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			22	2226	-			734					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.2200G>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	c	2.857	-0.236979	0.05944	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.13778	2.76;2.56	5.08	-10.2	0.00374	.	1.992760	0.01813	N	0.033576	T	0.04770	0.0129	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25082	-1.0142	10	0.13853	T	0.58	0.0564	9.4523	0.38734	0.0:0.1247:0.3762:0.499	.	734;734	E7ES17;O00291	.;HIP1_HUMAN	T	734	ENSP00000336747:A734T;ENSP00000410300:A734T	ENSP00000336747:A734T	A	-	1	0	HIP1	75020783	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-2.213000	0.01224	-1.829000	0.01201	-0.880000	0.02959	GCC		0.547	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		5	100	0	0	0	1	0	5	100				
MAST1	22983	broad.mit.edu	37	19	12954373	12954373	+	Silent	SNP	G	G	A	rs62108431	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:12954373G>A	ENST00000251472.4	+	4	318	c.279G>A	c.(277-279)tcG>tcA	p.S93S	MAST1_ENST00000591495.1_Silent_p.S89S	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTCTGGCCTCGCTCCCTTCAT	0.657													G|||	9	0.00179712	0.0	0.0	5008	,	,		16580	0.0		0.004	False		,,,				2504	0.0051					ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(277-279)tcG>tcA		microtubule associated serine/threonine kinase 1		G		1,4405	2.1+/-5.4	0,1,2202	70.0	60.0	63.0		279	-8.9	0.0	19	dbSNP_129	63	26,8574	17.3+/-56.4	0,26,4274	no	coding-synonymous	MAST1	NM_014975.2		0,27,6476	AA,AG,GG		0.3023,0.0227,0.2076		93/1571	12954373	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12954373G>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.279G>A	19.37:g.12954373G>A						MAST1_ENST00000591495.1_Silent_p.S89S	p.S93S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			4	318	+			93						Silent	SNP	ENST00000251472.4	37	c.279G>A	CCDS32921.1																																																																																				0.657	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		21	70	0	0	0	1	0	21	70				
C9orf3	84909	broad.mit.edu	37	9	97717510	97717510	+	Silent	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:97717510C>A	ENST00000375315.2	+	7	1713	c.1713C>A	c.(1711-1713)atC>atA	p.I571I	C9orf3_ENST00000297979.5_Silent_p.I472I	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	571					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CATCTGTTATCAAGCATGGAC	0.393																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1711-1713)atC>atA		chromosome 9 open reading frame 3							128.0	114.0	119.0					9																	97717510		2203	4300	6503	SO:0001819	synonymous_variant	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97717510C>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1713C>A	9.37:g.97717510C>A						C9orf3_ENST00000297979.5_Silent_p.I472I	p.I571I	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	7	1713	+			571					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Silent	SNP	ENST00000375315.2	37	c.1713C>A	CCDS55328.1																																																																																				0.393	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		9	74	1	0	0.000274275	1	0.000281047	9	74				
GABRR2	2570	broad.mit.edu	37	6	90024934	90024934	+	5'UTR	SNP	G	G	A	rs373950633		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:90024934G>A	ENST00000402938.3	-	0	84				GABRR2_ENST00000602808.1_5'UTR|GABRR2_ENST00000602399.1_Missense_Mutation_p.S9F	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GCCTGTGGCAGAGCAAATCCC	0.517																																						ENST00000602399.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(25-27)tCt>tTt		gamma-aminobutyric acid (GABA) A receptor, rho 2							166.0	178.0	174.0					6																	90024934		2203	4300	6503	SO:0001623	5_prime_UTR_variant	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:90024934G>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.-50C>T	6.37:g.90024934G>A						GABRR2_ENST00000602808.1_5'UTR|GABRR2_ENST00000402938.3_5'UTR	p.S9F	NM_002043.2	NP_002034.3	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	1	33	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	9					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.26C>T	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	G	6.408	0.443474	0.12164	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.52	4.65	0.58169	.	.	.	.	.	T	0.14013	0.0339	N	0.22421	0.69	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.06427	-1.0827	7	.	.	.	.	12.9458	0.58371	0.0759:0.0:0.9241:0.0	.	9	P28476	GBRR2_HUMAN	F	9	.	.	S	-	2	0	GABRR2	90081653	0.024000	0.19004	0.010000	0.14722	0.011000	0.07611	2.142000	0.42177	2.585000	0.87301	0.655000	0.94253	TCT		0.517	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			71	203	0	0	0	1	0	71	203				
OGDH	4967	broad.mit.edu	37	7	44721372	44721372	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:44721372G>A	ENST00000222673.5	+	10	1302	c.1260G>A	c.(1258-1260)gtG>gtA	p.V420V	OGDH_ENST00000449767.1_Silent_p.V416V|OGDH_ENST00000447398.1_Silent_p.V431V|OGDH_ENST00000444676.1_Silent_p.V435V|OGDH_ENST00000439616.2_Silent_p.V270V|OGDH_ENST00000543843.1_Silent_p.V371V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	420					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AGGGCATTGTGTACGAGACCT	0.542																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(1258-1260)gtG>gtA		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						289.0	215.0	240.0					7																	44721372		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44721372G>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1260G>A	7.37:g.44721372G>A						OGDH_ENST00000447398.1_Silent_p.V431V|OGDH_ENST00000444676.1_Silent_p.V435V|OGDH_ENST00000439616.2_Silent_p.V270V|OGDH_ENST00000543843.1_Silent_p.V371V|OGDH_ENST00000449767.1_Silent_p.V416V	p.V420V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			10	1302	+			420					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.1260G>A	CCDS34627.1																																																																																				0.542	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			29	112	0	0	0	1	0	29	112				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	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	42	0	0	0	1	0	3	42				
ACSM1	116285	broad.mit.edu	37	16	20636834	20636834	+	Missense_Mutation	SNP	C	C	T	rs145170042		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:20636834C>T	ENST00000307493.4	-	11	1505	c.1438G>A	c.(1438-1440)Ggg>Agg	p.G480R	ACSM1_ENST00000520010.1_Missense_Mutation_p.G480R|ACSM1_ENST00000219151.4_Missense_Mutation_p.G131R	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	480					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCTGCAGGCCCGATGCGATAC	0.617																																						ENST00000219151.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(391-393)Ggg>Agg		acyl-CoA synthetase medium-chain family member 1		C	ARG/GLY	0,4402		0,0,2201	55.0	48.0	50.0		1438	2.5	0.2	16	dbSNP_134	50	2,8598	2.2+/-6.3	0,2,4298	no	missense	ACSM1	NM_052956.2	125	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	480/578	20636834	2,13000	2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20636834C>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1438G>A	16.37:g.20636834C>T	ENSP00000301956:p.Gly480Arg					ACSM1_ENST00000307493.4_Missense_Mutation_p.G480R|ACSM1_ENST00000520010.1_Missense_Mutation_p.G480R	p.G131R			Q08AH1	ACSM1_HUMAN			12	1601	-			480					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.391G>A	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	c	12.65	2.000352	0.35320	0.0	2.33E-4	ENSG00000166743	ENST00000307493;ENST00000219151;ENST00000520010	T;T;T	0.51325	0.71;0.71;0.71	4.47	2.48	0.30137	AMP-dependent synthetase/ligase (1);	0.137908	0.32852	N	0.005578	T	0.51398	0.1672	M	0.91717	3.235	0.36874	D	0.889066	P	0.47034	0.889	B	0.38428	0.273	T	0.65294	-0.6203	10	0.87932	D	0	.	8.9033	0.35507	0.0:0.7643:0.1508:0.0849	.	480	Q08AH1	ACSM1_HUMAN	R	480;131;480	ENSP00000301956:G480R;ENSP00000219151:G131R;ENSP00000428047:G480R	ENSP00000219151:G131R	G	-	1	0	ACSM1	20544335	0.991000	0.36638	0.226000	0.23910	0.002000	0.02628	3.998000	0.57024	0.601000	0.29879	-0.136000	0.14681	GGG		0.617	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		10	27	0	0	0	1	0	10	27				
PCDH19	57526	broad.mit.edu	37	X	99663057	99663057	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:99663057G>A	ENST00000373034.4	-	1	2214	c.539C>T	c.(538-540)aCg>aTg	p.T180M	PCDH19_ENST00000255531.7_Missense_Mutation_p.T180M|PCDH19_ENST00000420881.2_Missense_Mutation_p.T180M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	180	Cadherin 2. {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(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GTCGCCGCGCGTCTTGATCTC	0.617																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(538-540)aCg>aTg		protocadherin 19							37.0	40.0	39.0					X																	99663057		2090	4177	6267	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663057G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.539C>T	X.37:g.99663057G>A	ENSP00000362125:p.Thr180Met					PCDH19_ENST00000420881.2_Missense_Mutation_p.T180M|PCDH19_ENST00000255531.7_Missense_Mutation_p.T180M	p.T180M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2214	-			180			Cadherin 2.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.539C>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032373	0.75504	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.58060	0.36;0.36;0.36	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.76414	0.3984	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.966;0.98	T	0.79976	-0.1576	10	0.87932	D	0	.	18.7936	0.91985	0.0:0.0:1.0:0.0	.	180;180;180	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	M	180	ENSP00000400327:T180M;ENSP00000362125:T180M;ENSP00000255531:T180M	ENSP00000255531:T180M	T	-	2	0	PCDH19	99549713	1.000000	0.71417	0.965000	0.40720	0.969000	0.65631	6.783000	0.75078	2.385000	0.81259	0.544000	0.68410	ACG		0.617	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		23	69	0	0	0	1	0	23	69				
EGFR	1956	broad.mit.edu	37	7	55259557	55259557	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:55259557A>G	ENST00000275493.2	+	21	2792	c.2615A>G	c.(2614-2616)gAa>gGa	p.E872G	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_Missense_Mutation_p.E819G|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.E827G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	872	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E872G(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TACCATGCAGAAGGAGGCAAA	0.517		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - Missense(1)	p.E872G(1)	lung(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2614-2616)gAa>gGa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						81.0	78.0	79.0					7																	55259557		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55259557A>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2615A>G	7.37:g.55259557A>G	ENSP00000275493:p.Glu872Gly	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.E819G|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.E827G	p.E872G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		21	2792	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		872			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2615A>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114911	0.37339	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82619	-1.63;-1.63;-1.63	5.82	5.82	0.92795	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.045104	0.85682	D	0.000000	T	0.71013	0.3290	N	0.12920	0.275	0.58432	D	0.999999	P;B	0.34826	0.471;0.278	B;B	0.31016	0.042;0.123	T	0.74928	-0.3497	10	0.72032	D	0.01	.	15.0046	0.71501	1.0:0.0:0.0:0.0	.	827;872	Q504U8;P00533	.;EGFR_HUMAN	G	827;742;872;819	ENSP00000415559:E827G;ENSP00000275493:E872G;ENSP00000395243:E819G	ENSP00000275493:E872G	E	+	2	0	EGFR	55227051	1.000000	0.71417	0.280000	0.24747	0.062000	0.15995	9.184000	0.94893	2.221000	0.72209	0.528000	0.53228	GAA		0.517	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		45	94	0	0	0	1	0	45	94				
CHD1L	9557	broad.mit.edu	37	1	146751862	146751862	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:146751862G>T	ENST00000369258.4	+	15	1723	c.1703G>T	c.(1702-1704)gGa>gTa	p.G568V	CHD1L_ENST00000431239.1_Missense_Mutation_p.G474V|CHD1L_ENST00000369259.3_Missense_Mutation_p.G364V|CHD1L_ENST00000361293.5_Missense_Mutation_p.G287V|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	568					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CAAGAGGAAGGAAGTAAGTTG	0.517																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1702-1704)gGa>gTa		chromodomain helicase DNA binding protein 1-like							64.0	60.0	61.0					1																	146751862		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146751862G>T	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.1703G>T	1.37:g.146751862G>T	ENSP00000358262:p.Gly568Val					CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.G364V|CHD1L_ENST00000431239.1_Missense_Mutation_p.G474V|CHD1L_ENST00000361293.5_Missense_Mutation_p.G287V	p.G568V	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			15	1723	+	all_hematologic(923;0.0487)		568					A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.1703G>T	CCDS927.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227643	0.39399	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	D;T;D;D	0.89746	-2.56;-1.38;-2.39;-1.53	5.96	4.95	0.65309	.	0.396246	0.29034	N	0.013345	T	0.76644	0.4016	L	0.38838	1.175	0.80722	D	1	D;B;B	0.53151	0.958;0.047;0.138	P;B;B	0.45712	0.491;0.037;0.014	T	0.74225	-0.3734	10	0.22706	T	0.39	.	6.9789	0.24692	0.1392:0.0:0.8608:0.0	.	474;364;568	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	V	474;364;568;287	ENSP00000389031:G474V;ENSP00000358263:G364V;ENSP00000358262:G568V;ENSP00000355100:G287V	ENSP00000355100:G287V	G	+	2	0	CHD1L	145218486	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.817000	0.39002	2.813000	0.96785	0.655000	0.94253	GGA		0.517	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		8	38	1	0	1.06961e-07	1	1.14552e-07	8	38				
C3orf27	23434	broad.mit.edu	37	3	128292388	128292388	+	Frame_Shift_Del	DEL	C	C	-	rs141391181		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:128292388delC	ENST00000356020.2	-	3	1151	c.185delG	c.(184-186)ggtfs	p.G62fs		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	62										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		GGTCCCCAGACCCCCGAGTGT	0.612																																						ENST00000356020.2																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(184-186)gtfs		chromosome 3 open reading frame 27							52.0	58.0	56.0					3																	128292388		2203	4300	6503	SO:0001589	frameshift_variant	23434							g.chr3:128292388delC	AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.185delG	3.37:g.128292388delC	ENSP00000348302:p.Gly62fs						p.G62fs	NM_007354.2	NP_031380.1	O15544	GR6_HUMAN		GBM - Glioblastoma multiforme(114;0.176)	3	1151	-			62						Frame_Shift_Del	DEL	ENST00000356020.2	37	c.185delG	CCDS3050.1																																																																																				0.612	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356924.1	NM_007354		20	81						20	81	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22749537	22749538	+	RNA	INS	-	-	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:22749537_22749538insT	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCACTGCTGATTTTTTTGCTG	0.396																																						ENST00000503442.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)			,	3,3537		0,3,1767					,	5.8	1.0			52	2,7846		0,2,3922	no	frameshift,intron	GBA3	NM_020973.3,NM_001128432.1	,	0,5,5689	A1A1,A1R,RR		0.0255,0.0847,0.0439	,	,		5,11383						57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749537_22749538insT	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749544_22749544dupT						GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN			0	377	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	INS	ENST00000503442.1	37																																																																																						0.396	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			11	24						11	24	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153247161	153247162	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:153247161_153247162insA	ENST00000281708.4	-	10	2869_2870	c.1640_1641insT	c.(1639-1641)ttafs	p.L547fs	FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.L371fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.L429fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.L547fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.L467fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.L547fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	547					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATCTTACCTGTAATGAATAGAC	0.401			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1639-1641)tcafs		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247161_153247162insA	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1641dupT	4.37:g.153247163_153247163dupA	ENSP00000281708:p.Leu547fs					FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.S429fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.S547fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.S371fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.S547fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.S467fs	p.S547fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2869_2870	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	547					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Ins	INS	ENST00000281708.4	37	c.1640_1641insT	CCDS3777.1																																																																																				0.401	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			26	100						26	100	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187540557	187540557	+	Frame_Shift_Del	DEL	A	A	-	rs371310336		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:187540557delA	ENST00000441802.2	-	10	7392	c.7183delT	c.(7183-7185)tatfs	p.Y2395fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2395	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGGCTTCATAAATCTGTTGT	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7183-7185)atfs		FAT atypical cadherin 1							44.0	45.0	45.0					4																	187540557		2008	4176	6184	SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540557delA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7183delT	4.37:g.187540557delA	ENSP00000406229:p.Tyr2395fs	HNSCC(5;0.00058)					p.Y2395fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7392	-			2395			Cadherin 22.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.7183delT	CCDS47177.1																																																																																				0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		12	37						12	37	---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83849831	83849832	+	Splice_Site	INS	-	-	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:83849831_83849832insT	ENST00000349129.2	+	22	5492		c.e22+1		DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000237163.5_Splice_Site|DOPEY1_ENST00000484282.1_Splice_Site	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1						protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GTATCACCAAGTAAGACTGCAC	0.351																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.e22+1		dopey family member 1																																				SO:0001630	splice_region_variant	23033				protein transport			g.chr6:83849831_83849832insT	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5232+1->T	6.37:g.83849832_83849832dupT						DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000484282.1_Splice_Site|DOPEY1_ENST00000237163.5_Splice_Site		NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	22	5492	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)						Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Splice_Site	INS	ENST00000349129.2	37		CCDS4996.1																																																																																				0.351	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	Intron	20	39						20	39	---	---	---	---
SPPL2A	84888	broad.mit.edu	37	15	51014390	51014390	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:51014390delT	ENST00000261854.5	-	13	1532	c.1258delA	c.(1258-1260)attfs	p.I420fs	SPPL2A_ENST00000559293.1_5'UTR	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	420					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CAGTATGCAATCAACAGGCCT	0.264																																					Melanoma(50;790 1209 4069 22965 33125)	ENST00000261854.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(1258-1260)ttfs		signal peptide peptidase like 2A							74.0	73.0	73.0					15																	51014390		2196	4294	6490	SO:0001589	frameshift_variant	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51014390delT		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.1258delA	15.37:g.51014390delT	ENSP00000261854:p.Ile420fs					SPPL2A_ENST00000559293.1_5'UTR	p.I420fs	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	13	1532	-			420					B2RDS0|Q8TAW1|Q96SZ8	Frame_Shift_Del	DEL	ENST00000261854.5	37	c.1258delA	CCDS10138.1																																																																																				0.264	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		9	43						9	43	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56059289	56059290	+	Frame_Shift_Ins	INS	-	-	GGTCA			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:56059289_56059290insGGTCA	ENST00000581208.1	-	3	776_777	c.736_737insTGACC	c.(736-738)cacfs	p.H246fs	VEZF1_ENST00000584396.1_Frame_Shift_Ins_p.H237fs	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	246					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ACAGCTTAAGTGGTCAGGCCTG	0.391																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(709-711)cttfs		vascular endothelial zinc finger 1																																				SO:0001589	frameshift_variant	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56059289_56059290insGGTCA	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.732_736dupTGACC	17.37:g.56059290_56059294dupGGTCA	ENSP00000462337:p.His246fs					VEZF1_ENST00000581208.1_Frame_Shift_Ins_p.L246fs	p.L237fs			Q14119	VEZF1_HUMAN			3	797_798	-			246						Frame_Shift_Ins	INS	ENST00000581208.1	37	c.709_710insTGACC	CCDS32687.1																																																																																				0.391	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			9	54						9	54	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36229073	36229075	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:36229073_36229075delAGA	ENST00000222270.7	+	36	7853_7855	c.7853_7855delAGA	c.(7852-7857)gagaag>gag	p.K2619del	IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_In_Frame_Del_p.K2619del	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2619	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GACAAGCGGGAGAAGTTCTACGA	0.606																																						ENST00000222270.7																			0											c.(7852-7857)gag>g																																						SO:0001651	inframe_deletion	9757							g.chr19:36229073_36229075delAGA	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7853_7855delAGA	19.37:g.36229073_36229075delAGA	ENSP00000222270:p.Lys2619del					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_In_Frame_Del_p.EK2618del	p.EK2618del	NM_014727.1	NP_055542.1					36	7853_7855	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	In_Frame_Del	DEL	ENST00000222270.7	37	c.7853_7855delAGA	CCDS46055.1																																																																																				0.606	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		8	29						8	29	---	---	---	---
OPRL1	4987	broad.mit.edu	37	20	62714907	62714908	+	Intron	INS	-	-	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr20:62714907_62714908insC	ENST00000336866.2	+	1	180				C20orf201_ENST00000308906.2_Frame_Shift_Ins_p.E185fs|OPRL1_ENST00000349451.3_5'Flank|C20orf201_ENST00000302096.4_Intron|OPRL1_ENST00000355631.4_Intron	NM_182647.2	NP_872588.1	P41146	OPRX_HUMAN	opiate receptor-like 1						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CCCTCCCCTTTCCCCGCCCCTA	0.728																																						ENST00000308906.2																			0											c.(553-555)aagfs		chromosome 20 open reading frame 201																																				SO:0001627	intron_variant	198437							g.chr20:62714907_62714908insC		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000336866.2:c.-185+3202->C	20.37:g.62714911_62714911dupC						OPRL1_ENST00000336866.2_Intron|OPRL1_ENST00000355631.4_Intron|C20orf201_ENST00000302096.4_Intron	p.K185fs	NM_001007125.1	NP_001007126.1	Q8TD35	CT201_HUMAN			2	692_693	-			29					Q8TD34|Q8WYH9|Q9H4K4	Frame_Shift_Ins	INS	ENST00000336866.2	37	c.553_554insG	CCDS13556.1																																																																																				0.728	OPRL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080294.1	NM_182647		4	5						4	5	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085865_11085865dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	6						5	6	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33066556	33066557	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr21:33066556_33066557delAT	ENST00000286835.7	-	11	1664_1665	c.1282_1283delAT	c.(1282-1284)atgfs	p.M428fs	SCAF4_ENST00000434667.3_Frame_Shift_Del_p.M413fs|SCAF4_ENST00000399804.1_Frame_Shift_Del_p.M428fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	428						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTTATCAGACATATGTCGCTTA	0.302																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1282-1284)gfs		SR-related CTD-associated factor 4																																				SO:0001589	frameshift_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33066556_33066557delAT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1282_1283delAT	21.37:g.33066558_33066559delAT	ENSP00000286835:p.Met428fs					SCAF4_ENST00000434667.3_Frame_Shift_Del_p.M413fs|SCAF4_ENST00000399804.1_Frame_Shift_Del_p.M428fs	p.M428fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			11	1664_1665	-			428					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Frame_Shift_Del	DEL	ENST00000286835.7	37	c.1282_1283delAT	CCDS33537.1																																																																																				0.302	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		10	16						10	16	---	---	---	---
