#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
MAP3K19	80122	broad.mit.edu	37	2	135744717	135744717	+	Silent	SNP	C	C	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:135744717C>A	ENST00000375845.3	-	7	1755	c.1725G>T	c.(1723-1725)ccG>ccT	p.P575P	MAP3K19_ENST00000392915.1_Silent_p.P592P|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.P462P	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	575							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GTCCCAAAGCCGGGAAAATTT	0.438																																						ENST00000375845.3																			0											c.(1723-1725)ccG>ccT		mitogen-activated protein kinase kinase kinase 19							78.0	83.0	81.0					2																	135744717		2203	4300	6503	SO:0001819	synonymous_variant	80122							g.chr2:135744717C>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1725G>T	2.37:g.135744717C>A						MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.P592P|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.P462P|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron	p.P575P	NM_025052.3	NP_079328.3					7	1755	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.1725G>T	CCDS2176.2																																																																																				0.438	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		41	72	1	0	2.40579e-17	1	2.80308e-17	41	72				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																54718							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	143	0	0	0	1	0	5	143				
ZEB1	6935	broad.mit.edu	37	10	31809603	31809603	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr10:31809603C>T	ENST00000320985.10	+	7	1450	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L	ZEB1_ENST00000542815.3_Missense_Mutation_p.S380L|ZEB1_ENST00000361642.5_Missense_Mutation_p.S448L|ZEB1_ENST00000560721.2_Missense_Mutation_p.S427L|ZEB1_ENST00000446923.2_Missense_Mutation_p.S431L|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	447					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATCAATGCTTCACCCATACAA	0.383																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(1291-1293)tCa>tTa		zinc finger E-box binding homeobox 1							80.0	74.0	76.0					10																	31809603		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809603C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1340C>T	10.37:g.31809603C>T	ENSP00000319248:p.Ser447Leu					ZEB1_ENST00000320985.10_Missense_Mutation_p.S447L|ZEB1_ENST00000560721.2_Missense_Mutation_p.S427L|ZEB1_ENST00000542815.3_Missense_Mutation_p.S380L|ZEB1_ENST00000361642.5_Missense_Mutation_p.S448L|ZEB1_ENST00000559858.1_3'UTR	p.S431L	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	1683	+		Prostate(175;0.0156)	447					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1292C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516187	0.44763	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;D;T	0.81908	-0.98;-0.98;-0.98;-0.98;-1.55;-0.98	5.87	5.87	0.94306	.	0.427525	0.19656	N	0.109093	T	0.75932	0.3917	N	0.22421	0.69	0.44635	D	0.997616	B;B;B;B;B;B;B;B	0.32693	0.38;0.216;0.085;0.222;0.062;0.009;0.105;0.222	B;B;B;B;B;B;B;B	0.32624	0.149;0.049;0.026;0.036;0.022;0.011;0.036;0.036	T	0.70806	-0.4772	10	0.24483	T	0.36	-10.7659	20.5827	0.99408	0.0:1.0:0.0:0.0	.	380;447;431;447;447;427;448;447	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	L	229;447;448;447;380;447;427;306;338;431	ENSP00000444282:S229L;ENSP00000354487:S448L;ENSP00000444891:S380L;ENSP00000319248:S447L;ENSP00000405958:S427L;ENSP00000391612:S431L	ENSP00000319248:S447L	S	+	2	0	ZEB1	31849609	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.726000	0.54977	2.941000	0.99782	0.655000	0.94253	TCA		0.383	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		4	64	0	0	0	1	0	4	64				
RASGRP3	25780	broad.mit.edu	37	2	33783279	33783279	+	Splice_Site	SNP	C	C	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:33783279C>G	ENST00000403687.3	+	16	2321	c.1581C>G	c.(1579-1581)gaC>gaG	p.D527E	AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000407811.1_Splice_Site_p.D526E|RASGRP3_ENST00000402538.3_Splice_Site_p.D527E	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	527					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATTTTTCAGACTGTGGAGCCA	0.547																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.e16-1		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							69.0	72.0	71.0					2																	33783279		1956	4149	6105	SO:0001630	splice_region_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33783279C>G	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1580-1C>G	2.37:g.33783279C>G						RASGRP3_ENST00000407811.1_Splice_Site_p.D526_splice|RASGRP3_ENST00000402538.3_Splice_Site_p.D527_splice|AC020594.5_ENST00000437680.1_RNA	p.D527_splice	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			16	2321	+	all_hematologic(175;0.115)		527					D6W583|O94931|Q53SD7	Splice_Site	SNP	ENST00000403687.3	37	c.1579_splice	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306502	0.60305	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	D;D;D	0.92595	-3.07;-3.07;-3.07	5.14	2.31	0.28768	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.114078	0.56097	D	0.000029	D	0.90950	0.7155	L	0.33339	1.005	0.42485	D	0.992876	P;P	0.46621	0.881;0.881	P;P	0.59288	0.855;0.855	D	0.87638	0.2520	10	0.33940	T	0.23	.	9.3548	0.38159	0.0:0.594:0.0:0.406	.	526;527	D6W583;Q8IV61	.;GRP3_HUMAN	E	527;527;526	ENSP00000385886:D527E;ENSP00000384192:D527E;ENSP00000383917:D526E	ENSP00000385886:D527E	D	+	3	2	RASGRP3	33636783	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.154000	0.31688	0.667000	0.31107	0.650000	0.86243	GAC		0.547	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376	Missense_Mutation	8	7	0	0	0	1	0	8	7				
KIF20B	9585	broad.mit.edu	37	10	91492823	91492823	+	Intron	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr10:91492823C>T	ENST00000371728.3	+	19	2610				KIF20B_ENST00000394289.2_Intron|KIF20B_ENST00000260753.4_Intron|KIF20B_ENST00000478929.1_Intron|KIF20B_ENST00000416354.1_Missense_Mutation_p.S852L	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GGTACTACTTCAGCTGCCAGC	0.383																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(2554-2556)tCa>tTa		kinesin family member 20B							45.0	44.0	44.0					10																	91492823		2203	4300	6503	SO:0001627	intron_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91492823C>T	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2545+10C>T	10.37:g.91492823C>T						KIF20B_ENST00000260753.4_Intron|KIF20B_ENST00000394289.2_Intron|KIF20B_ENST00000371728.3_Intron|KIF20B_ENST00000478929.1_Intron	p.S852L			Q96Q89	KI20B_HUMAN			19	2627	+			849					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.2555C>T		.	.	.	.	.	.	.	.	.	.	c	10.65	1.409080	0.25378	.	.	ENSG00000138182	ENST00000416354	T	0.68765	-0.35	4.98	-0.117	0.13551	.	.	.	.	.	T	0.52500	0.1738	.	.	.	0.23913	N	0.996483	.	.	.	.	.	.	T	0.42292	-0.9460	5	.	.	.	.	5.6605	0.17667	0.0:0.574:0.1319:0.2941	.	.	.	.	L	852	ENSP00000411545:S852L	.	S	+	2	0	KIF20B	91482803	0.003000	0.15002	0.006000	0.13384	0.149000	0.21700	-0.674000	0.05233	-0.182000	0.10602	-0.770000	0.03390	TCA		0.383	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		21	18	0	0	0	1	0	21	18				
AHNAK	79026	broad.mit.edu	37	11	62297385	62297385	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:62297385G>T	ENST00000378024.4	-	5	4778	c.4504C>A	c.(4504-4506)Cat>Aat	p.H1502N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1502					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGGCCATGAACCTCCACA	0.468																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4504-4506)Cat>Aat		AHNAK nucleoprotein							190.0	200.0	197.0					11																	62297385		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297385G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4504C>A	11.37:g.62297385G>T	ENSP00000367263:p.His1502Asn					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.H1502N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4778	-		Melanoma(852;0.155)	1502					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4504C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	5.245	0.230742	0.09969	.	.	ENSG00000124942	ENST00000378024	T	0.00864	5.6	4.34	3.4	0.38934	.	0.833784	0.10774	N	0.635640	T	0.01976	0.0062	M	0.75085	2.285	0.19775	N	0.999956	B	0.31705	0.336	B	0.38225	0.268	T	0.44421	-0.9329	10	0.17832	T	0.49	.	8.3629	0.32369	0.0:0.1706:0.6532:0.1762	.	1502	Q09666	AHNK_HUMAN	N	1502	ENSP00000367263:H1502N	ENSP00000367263:H1502N	H	-	1	0	AHNAK	62053961	0.008000	0.16893	0.952000	0.39060	0.888000	0.51559	0.650000	0.24858	0.774000	0.33427	0.450000	0.29827	CAT		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		84	202	1	0	7.427e-35	1	9.1448e-35	84	202				
GTF2IRD1	9569	broad.mit.edu	37	7	73960126	73960126	+	Silent	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:73960126C>T	ENST00000265755.3	+	16	2112	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	GTF2IRD1_ENST00000424337.2_Silent_p.F573F|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000476977.1_Silent_p.F573F|GTF2IRD1_ENST00000455841.2_Silent_p.F605F	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	573					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCTGCTCTTCAACACACGAT	0.622																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1717-1719)ttC>ttT		GTF2I repeat domain containing 1							65.0	55.0	59.0					7																	73960126		2203	4300	6503	SO:0001819	synonymous_variant	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73960126C>T	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.1719C>T	7.37:g.73960126C>T						GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Silent_p.F573F|GTF2IRD1_ENST00000424337.2_Silent_p.F573F|GTF2IRD1_ENST00000455841.2_Silent_p.F605F	p.F573F			Q9UHL9	GT2D1_HUMAN			16	3410	+			573					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	ENST00000265755.3	37	c.1719C>T	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	C	37	6.020120	0.97211	.	.	ENSG00000006704	ENST00000470715	.	.	.	4.83	2.99	0.34606	.	.	.	.	.	T	0.58192	0.2105	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53975	-0.8362	4	.	.	.	-22.1928	8.6193	0.33851	0.0:0.8179:0.0:0.1821	.	.	.	.	L	12	.	.	S	+	2	0	GTF2IRD1	73598062	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.989000	0.49393	1.041000	0.40125	0.454000	0.30748	TCA		0.622	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		41	55	0	0	0	1	0	41	55				
PKD1	5310	broad.mit.edu	37	16	2141816	2141816	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:2141816G>A	ENST00000262304.4	-	41	11711	c.11503C>T	c.(11503-11505)Cgc>Tgc	p.R3835C	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R3834C|MIR1225_ENST00000408729.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3835					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGCAGGAAGCGCAGCCGGTCG	0.697																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(11503-11505)Cgc>Tgc		polycystic kidney disease 1 (autosomal dominant)							16.0	19.0	18.0					16																	2141816		2188	4288	6476	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2141816G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11503C>T	16.37:g.2141816G>A	ENSP00000262304:p.Arg3835Cys					RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R3834C	p.R3835C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			41	11711	-			3835					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.11503C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121560	0.56613	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.70749	-0.51;-0.51	4.49	-1.51	0.08664	Polycystin cation channel, PKD1/PKD2 (1);	1.499640	0.03746	N	0.255760	T	0.68467	0.3004	N	0.19112	0.55	0.25989	N	0.982276	D;D	0.64830	0.984;0.994	P;P	0.57548	0.541;0.823	T	0.59931	-0.7361	10	0.56958	D	0.05	.	8.1405	0.31080	0.0:0.3391:0.4492:0.2117	.	3834;3835	P98161-3;P98161	.;PKD1_HUMAN	C	3835;3834;3169	ENSP00000262304:R3835C;ENSP00000399501:R3834C	ENSP00000262304:R3835C	R	-	1	0	PKD1	2081817	0.000000	0.05858	0.778000	0.31720	0.791000	0.44710	-1.352000	0.02619	-0.421000	0.07416	-0.502000	0.04539	CGC		0.697	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	15	0	0	0	1	0	3	15				
CDH3	1001	broad.mit.edu	37	16	68679292	68679292	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:68679292C>T	ENST00000264012.4	+	1	554	c.10C>T	c.(10-12)Cct>Tct	p.P4S	CDH3_ENST00000581171.1_5'UTR|RP11-615I2.2_ENST00000562172.1_RNA|CDH3_ENST00000429102.2_Missense_Mutation_p.P4S	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	4					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CATGGGGCTCCCTCGTGGACC	0.721																																						ENST00000264012.4																			1	Unknown(1)	p.?(1)	breast(1)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(10-12)Cct>Tct		cadherin 3, type 1, P-cadherin (placental)							52.0	45.0	47.0					16																	68679292		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68679292C>T	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.10C>T	16.37:g.68679292C>T	ENSP00000264012:p.Pro4Ser					CDH3_ENST00000429102.2_Missense_Mutation_p.P4S|RP11-615I2.2_ENST00000562172.1_RNA|CDH3_ENST00000581171.1_5'UTR	p.P4S	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	1	554	+		Ovarian(137;0.0564)	4					B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.10C>T	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618981	0.66787	.	.	ENSG00000062038	ENST00000429102;ENST00000264012	T;T	0.54071	0.59;0.61	4.45	2.44	0.29823	.	.	.	.	.	T	0.26702	0.0653	N	0.08118	0	0.21499	N	0.999663	B	0.06786	0.001	B	0.06405	0.002	T	0.21655	-1.0239	9	0.15066	T	0.55	.	5.5875	0.17283	0.0:0.6878:0.203:0.1092	.	4	P22223	CADH3_HUMAN	S	4	ENSP00000398485:P4S;ENSP00000264012:P4S	ENSP00000264012:P4S	P	+	1	0	CDH3	67236793	0.000000	0.05858	0.017000	0.16124	0.905000	0.53344	0.258000	0.18387	0.473000	0.27368	0.655000	0.94253	CCT		0.721	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		13	16	0	0	0	1	0	13	16				
IRGC	56269	broad.mit.edu	37	19	44223568	44223568	+	Silent	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr19:44223568G>A	ENST00000244314.5	+	2	1057	c.858G>A	c.(856-858)gcG>gcA	p.A286A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	286						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAGGGCTGGCGGCCGCCTACG	0.637																																					Colon(189;350 2037 11447 13433 38914)	ENST00000244314.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25						c.(856-858)gcG>gcA		immunity-related GTPase family, cinema							60.0	59.0	59.0					19																	44223568		2203	4299	6502	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223568G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.858G>A	19.37:g.44223568G>A							p.A286A	NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN			2	1057	+		Prostate(69;0.0435)	286					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.858G>A	CCDS12629.1																																																																																				0.637	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		35	69	0	0	0	1	0	35	69				
DST	667	broad.mit.edu	37	6	56458551	56458551	+	Missense_Mutation	SNP	G	G	T	rs74609186	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:56458551G>T	ENST00000361203.3	-	44	12010	c.12003C>A	c.(12001-12003)gaC>gaA	p.D4001E	DST_ENST00000446842.2_Missense_Mutation_p.D3677E|DST_ENST00000370754.5_Missense_Mutation_p.D4181E|DST_ENST00000421834.2_Missense_Mutation_p.D1915E|DST_ENST00000370788.2_Missense_Mutation_p.D1915E|DST_ENST00000370769.4_Missense_Mutation_p.D4003E|DST_ENST00000244364.6_Missense_Mutation_p.D1589E|DST_ENST00000312431.6_Missense_Mutation_p.D4001E			Q03001	DYST_HUMAN	dystonin	4001					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTGCCACCGTCTCTCTTGC	0.443																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(12541-12543)gaC>gaA		dystonin							166.0	162.0	163.0					6																	56458551		1919	4144	6063	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56458551G>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12003C>A	6.37:g.56458551G>T	ENSP00000354508:p.Asp4001Glu					DST_ENST00000370788.2_Missense_Mutation_p.D1915E|DST_ENST00000361203.3_Missense_Mutation_p.D4001E|DST_ENST00000312431.6_Missense_Mutation_p.D4001E|DST_ENST00000370769.4_Missense_Mutation_p.D4003E|DST_ENST00000244364.6_Missense_Mutation_p.D1589E|DST_ENST00000421834.2_Missense_Mutation_p.D1915E|DST_ENST00000446842.2_Missense_Mutation_p.D3677E	p.D4181E			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		48	12542	-	Lung NSC(77;0.103)		4001					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.12543C>A		.	.	.	.	.	.	.	.	.	.	G	2.139	-0.397148	0.04899	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;D;T;T	0.82711	1.07;-0.07;-0.08;0.03;0.87;-1.64;-0.01;-0.1	5.44	-10.9	0.00192	.	0.492952	0.18515	N	0.138954	T	0.35998	0.0951	N	0.17674	0.51	0.24824	N	0.992567	B;B;B;B;B	0.21225	0.005;0.053;0.031;0.001;0.002	B;B;B;B;B	0.31495	0.008;0.131;0.084;0.002;0.006	T	0.36648	-0.9739	9	0.18276	T	0.48	.	4.3099	0.10965	0.1127:0.4123:0.2688:0.2061	.	1915;4003;4181;4001;1589	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	E	1589;4181;4003;1915;3677;4001;1915;4001	ENSP00000244364:D1589E;ENSP00000359790:D4181E;ENSP00000359805:D4003E;ENSP00000400883:D1915E;ENSP00000393645:D3677E;ENSP00000307959:D4001E;ENSP00000359824:D1915E;ENSP00000354508:D4001E	ENSP00000244364:D1589E	D	-	3	2	DST	56566510	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	-1.985000	0.01485	-4.280000	0.00059	-1.247000	0.01520	GAC		0.443	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		4	151	1	0	0.150653	1	0.150653	4	151				
ZC3H15	55854	broad.mit.edu	37	2	187370222	187370222	+	Silent	SNP	T	T	A	rs369740479		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:187370222T>A	ENST00000337859.6	+	7	989	c.762T>A	c.(760-762)tcT>tcA	p.S254S	ZC3H15_ENST00000544130.1_Silent_p.S49S|AC018867.2_ENST00000595956.1_5'Flank	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	254	Required for interaction with DRG1. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CTCTAGAATCTTTTCTTGCCT	0.368																																						ENST00000337859.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(760-762)tcT>tcA		zinc finger CCCH-type containing 15							81.0	80.0	80.0					2																	187370222		1833	4084	5917	SO:0001819	synonymous_variant	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187370222T>A		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.762T>A	2.37:g.187370222T>A						ZC3H15_ENST00000544130.1_Silent_p.S49S	p.S254S	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		7	989	+			254			Required for interaction with DRG1 (By similarity).		B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Silent	SNP	ENST00000337859.6	37	c.762T>A	CCDS42791.1																																																																																				0.368	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		22	35	0	0	0	1	0	22	35				
SERPINB1	1992	broad.mit.edu	37	6	2836370	2836370	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:2836370G>C	ENST00000380739.5	-	5	741	c.539C>G	c.(538-540)aCg>aGg	p.T180R	SERPINB1_ENST00000537185.1_Missense_Mutation_p.T29R|SERPINB1_ENST00000476896.1_5'UTR	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	180					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TGCATTCGTCGTGGCTTCTTT	0.393																																						ENST00000380739.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13						c.(538-540)aCg>aGg		serpin peptidase inhibitor, clade B (ovalbumin), member 1							162.0	155.0	158.0					6																	2836370		2203	4300	6503	SO:0001583	missense	1992				regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity	g.chr6:2836370G>C	M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"""Serine (or cysteine) peptidase inhibitors"""	3311	protein-coding gene	gene with protein product		130135	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"""	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.539C>G	6.37:g.2836370G>C	ENSP00000370115:p.Thr180Arg					SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_Missense_Mutation_p.T29R	p.T180R			P30740	ILEU_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0717)	5	741	-	Ovarian(93;0.0412)		180					A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	ENST00000380739.5	37	c.539C>G	CCDS4477.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682271	0.88542	.	.	ENSG00000021355	ENST00000380739;ENST00000542771;ENST00000537185	T;D	0.89485	1.41;-2.52	5.36	5.36	0.76844	Serpin domain (3);	0.047486	0.85682	N	0.000000	D	0.96809	0.8958	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98001	1.0360	10	0.87932	D	0	.	18.4436	0.90676	0.0:0.0:1.0:0.0	.	180	P30740	ILEU_HUMAN	R	180;142;29	ENSP00000370115:T180R;ENSP00000444543:T29R	ENSP00000370115:T180R	T	-	2	0	SERPINB1	2781369	1.000000	0.71417	0.417000	0.26559	0.019000	0.09904	9.506000	0.97992	2.683000	0.91414	0.655000	0.94253	ACG		0.393	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			28	88	0	0	0	1	0	28	88				
KCNK7	10089	broad.mit.edu	37	11	65360906	65360906	+	Intron	SNP	C	C	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:65360906C>G	ENST00000340313.4	-	2	942				KCNK7_ENST00000394216.2_Missense_Mutation_p.K253N|KCNK7_ENST00000394217.2_Intron|KCNK7_ENST00000342202.4_Intron|AP001362.1_ENST00000597463.1_5'Flank	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						CCAGGCTCCTCTTCCCCCTTC	0.652																																						ENST00000394216.2																			0				endometrium(1)|liver(1)|lung(1)	3						c.(757-759)aaG>aaC		potassium channel, subfamily K, member 7							60.0	64.0	63.0					11																	65360906		2201	4297	6498	SO:0001627	intron_variant	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65360906C>G	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.718+40G>C	11.37:g.65360906C>G						KCNK7_ENST00000394217.2_Intron|KCNK7_ENST00000342202.4_Intron|KCNK7_ENST00000340313.4_Intron	p.K253N	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN			2	982	-			0					Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	c.759G>C	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522040	0.13005	.	.	ENSG00000173338	ENST00000394216	T	0.19250	2.16	3.75	0.786	0.18590	.	.	.	.	.	T	0.11110	0.0271	.	.	.	0.09310	N	1	B	0.18166	0.026	B	0.11329	0.006	T	0.36529	-0.9744	7	.	.	.	.	5.7016	0.17885	0.0:0.642:0.0:0.358	.	253	Q9Y2U2-3	.	N	253	ENSP00000377764:K253N	.	K	-	3	2	KCNK7	65117482	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	0.798000	0.27014	0.069000	0.16605	0.561000	0.74099	AAG		0.652	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		37	53	0	0	0	1	0	37	53				
MYO15A	51168	broad.mit.edu	37	17	18069767	18069767	+	Missense_Mutation	SNP	C	C	T	rs377125285		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr17:18069767C>T	ENST00000205890.5	+	61	10218	c.9880C>T	c.(9880-9882)Cgg>Tgg	p.R3294W	MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W|MYO15A_ENST00000451725.2_Intron	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3294	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCTGGTTCCGGCGTGTGCT	0.577																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(9880-9882)Cgg>Tgg		myosin XVA		C	TRP/ARG	1,4229		0,1,2114	113.0	124.0	120.0		9880	5.5	1.0	17		120	0,8470		0,0,4235	no	missense	MYO15A	NM_016239.3	101	0,1,6349	TT,TC,CC		0.0,0.0236,0.0079	probably-damaging	3294/3531	18069767	1,12699	2115	4235	6350	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18069767C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9880C>T	17.37:g.18069767C>T	ENSP00000205890:p.Arg3294Trp					MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W	p.R3294W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			61	10218	+	all_neural(463;0.228)		3294			FERM.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.9880C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493420	0.44352	2.36E-4	0.0	ENSG00000091536	ENST00000205890;ENST00000418233	D	0.89617	-2.54	5.48	5.48	0.80851	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.94215	0.8143	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.91635	0.999;0.876;0.999;0.991	D	0.94418	0.7638	9	0.62326	D	0.03	.	14.21	0.65759	0.1494:0.8506:0.0:0.0	.	283;558;3294;301	B4DLV9;B4DFC7;Q9UKN7;Q8TCK0	.;.;MYO15_HUMAN;.	W	3294;283	ENSP00000205890:R3294W	ENSP00000205890:R3294W	R	+	1	2	MYO15A	18010492	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.548000	0.53670	2.564000	0.86499	0.491000	0.48974	CGG		0.577	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		42	63	0	0	0	1	0	42	63				
ASB2	51676	broad.mit.edu	37	14	94404063	94404063	+	Silent	SNP	G	G	C	rs200072486	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:94404063G>C	ENST00000315988.4	-	7	2096	c.1608C>G	c.(1606-1608)gcC>gcG	p.A536A	ASB2_ENST00000556337.1_5'Flank|ASB2_ENST00000555019.1_Silent_p.A584A|RP11-131H24.4_ENST00000557646.1_5'Flank	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	536	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCTTGATGACGGCCCAGTCCT	0.617																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1750-1752)gcC>gcG		ankyrin repeat and SOCS box containing 2							114.0	96.0	102.0					14																	94404063		2203	4300	6503	SO:0001819	synonymous_variant	51676				intracellular signal transduction			g.chr14:94404063G>C	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1608C>G	14.37:g.94404063G>C						ASB2_ENST00000315988.4_Silent_p.A536A	p.A584A	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	9	2182	-		all_cancers(154;0.13)	536			SOCS box.		B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	c.1752C>G	CCDS9915.1																																																																																				0.617	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			5	69	0	0	0	1	0	5	69				
ZNF195	7748	broad.mit.edu	37	11	3380776	3380776	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:3380776G>C	ENST00000399602.4	-	6	1588	c.1462C>G	c.(1462-1464)Cat>Gat	p.H488D	ZNF195_ENST00000526601.1_Missense_Mutation_p.H469D|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.H420D|ZNF195_ENST00000354599.6_Missense_Mutation_p.H416D|ZNF195_ENST00000005082.9_Missense_Mutation_p.H465D|ZNF195_ENST00000343338.7_Missense_Mutation_p.H420D	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCTTCAGAATGAGTTCTCTTA	0.433																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1246-1248)Cat>Gat		zinc finger protein 195							130.0	133.0	132.0					11																	3380776		2052	4214	6266	SO:0001583	missense	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380776G>C		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1462C>G	11.37:g.3380776G>C	ENSP00000382511:p.His488Asp					ZNF195_ENST00000399602.4_Missense_Mutation_p.H488D|ZNF195_ENST00000429541.2_Missense_Mutation_p.H420D|ZNF195_ENST00000005082.9_Missense_Mutation_p.H465D|ZNF195_ENST00000343338.7_Missense_Mutation_p.H420D|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Missense_Mutation_p.H469D	p.H416D	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1350	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	488					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.1246C>G	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	g	17.68	3.449379	0.63178	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.82259	0.4998	H	0.95645	3.7	0.35589	D	0.806917	B;D;P;D;P;D	0.62365	0.184;0.991;0.784;0.988;0.82;0.988	P;P;P;P;P;P	0.60117	0.523;0.742;0.794;0.625;0.869;0.625	D	0.85483	0.1180	9	0.87932	D	0	.	7.9805	0.30181	0.0:0.0:1.0:0.0	.	469;347;465;420;488;416	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	D	416;488;420;420;465;469	ENSP00000346613:H416D;ENSP00000382511:H488D;ENSP00000344483:H420D;ENSP00000387998:H420D;ENSP00000005082:H465D;ENSP00000435828:H469D	ENSP00000005082:H465D	H	-	1	0	ZNF195	3337352	1.000000	0.71417	0.026000	0.17262	0.772000	0.43724	6.673000	0.74482	0.638000	0.30545	0.305000	0.20034	CAT		0.433	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			44	83	0	0	0	1	0	44	83				
SUPT3H	8464	broad.mit.edu	37	6	44900479	44900479	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:44900479C>T	ENST00000371459.1	-	10	988	c.823G>A	c.(823-825)Gag>Aag	p.E275K	SUPT3H_ENST00000306867.5_Missense_Mutation_p.E275K|SUPT3H_ENST00000371458.1_Missense_Mutation_p.E58K|SUPT3H_ENST00000371461.2_Missense_Mutation_p.E286K|SUPT3H_ENST00000371460.1_Missense_Mutation_p.E286K	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	357					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CTGTGAGCCTCAACACCACAG	0.453																																						ENST00000371460.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						c.(856-858)Gag>Aag		suppressor of Ty 3 homolog (S. cerevisiae)							76.0	59.0	65.0					6																	44900479		2203	4300	6503	SO:0001583	missense	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44900479C>T	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.823G>A	6.37:g.44900479C>T	ENSP00000360514:p.Glu275Lys					SUPT3H_ENST00000371459.1_Missense_Mutation_p.E275K|SUPT3H_ENST00000371458.1_Missense_Mutation_p.E58K|SUPT3H_ENST00000371461.2_Missense_Mutation_p.E286K|SUPT3H_ENST00000306867.5_Missense_Mutation_p.E275K	p.E286K	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN			12	1173	-			357					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	c.856G>A	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105650	0.56291	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000371458;ENST00000306867;ENST00000371461	T;T;T;T;T	0.50277	0.79;0.81;0.75;0.81;0.79	5.43	5.43	0.79202	.	0.050783	0.85682	D	0.000000	T	0.57257	0.2041	M	0.72894	2.215	0.58432	D	0.999994	D;D	0.71674	0.998;0.993	D;D	0.78314	0.991;0.971	T	0.53215	-0.8470	10	0.10377	T	0.69	.	19.2497	0.93919	0.0:1.0:0.0:0.0	.	286;357	O75486-3;O75486	.;SUPT3_HUMAN	K	286;275;58;275;286	ENSP00000360515:E286K;ENSP00000360514:E275K;ENSP00000360513:E58K;ENSP00000306718:E275K;ENSP00000360516:E286K	ENSP00000306718:E275K	E	-	1	0	SUPT3H	45008457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.065000	0.76727	2.549000	0.85964	0.655000	0.94253	GAG		0.453	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		14	26	0	0	0	1	0	14	26				
FAM184A	79632	broad.mit.edu	37	6	119297190	119297190	+	Silent	SNP	G	G	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:119297190G>C	ENST00000338891.7	-	12	2918	c.2475C>G	c.(2473-2475)ctC>ctG	p.L825L	FAM184A_ENST00000352896.5_Silent_p.L705L|FAM184A_ENST00000368475.4_Silent_p.L705L|FAM184A_ENST00000521531.1_Silent_p.L825L|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	825						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTTGATGGTTGAGTTCTGAGC	0.338																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(2473-2475)ctC>ctG		family with sequence similarity 184, member A							91.0	83.0	85.0					6																	119297190		1867	4108	5975	SO:0001819	synonymous_variant	79632							g.chr6:119297190G>C	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2475C>G	6.37:g.119297190G>C						FAM184A_ENST00000352896.5_Silent_p.L705L|FAM184A_ENST00000368475.4_Silent_p.L705L|FAM184A_ENST00000521531.1_Silent_p.L825L|RP11-351A11.1_ENST00000518570.1_RNA	p.L825L	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			12	2918	-			825					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	c.2475C>G	CCDS43499.1																																																																																				0.338	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		19	38	0	0	0	1	0	19	38				
PLEKHM1P	440456	broad.mit.edu	37	17	62796874	62796874	+	RNA	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr17:62796874G>A	ENST00000582986.1	-	0	1046					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										GACTCACAGCGAAGCAGGGAG	0.627																																						ENST00000582986.1																			0																																																			440456							g.chr17:62796874G>A			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62796874G>A								NR_024386.1						0	1046	-									RNA	SNP	ENST00000582986.1	37																																																																																						0.627	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		17	22	0	0	0	1	0	17	22				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			386757							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	13	0	0	0	1	0	3	13				
SLC22A25	387601	broad.mit.edu	37	11	62931543	62931543	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:62931543C>T	ENST00000306494.6	-	9	1396	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25									p.G466V(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AGTAGCTCTTCCCCTTGGAGT	0.403																																						ENST00000306494.6																			1	Substitution - Missense(1)	p.G466V(1)	lung(1)	NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						c.(1396-1398)gGa>gAa		solute carrier family 22, member 25							107.0	118.0	114.0					11																	62931543		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62931543C>T	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1397G>A	11.37:g.62931543C>T	ENSP00000307443:p.Gly466Glu					SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	p.G466E	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN			9	1396	-			466						Missense_Mutation	SNP	ENST00000306494.6	37	c.1397G>A	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	C	8.734	0.917278	0.17982	.	.	ENSG00000196600	ENST00000306494	T	0.70869	-0.52	4.03	0.822	0.18806	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.343731	0.29830	N	0.011093	T	0.50292	0.1607	N	0.08118	0	0.38811	D	0.955428	P	0.41188	0.741	P	0.44921	0.464	T	0.49312	-0.8953	10	0.46703	T	0.11	.	7.1021	0.25343	0.0:0.3251:0.4947:0.1803	.	466	Q6T423	S22AP_HUMAN	E	466	ENSP00000307443:G466E	ENSP00000307443:G466E	G	-	2	0	SLC22A25	62688119	0.000000	0.05858	0.758000	0.31321	0.006000	0.05464	-0.297000	0.08276	0.480000	0.27534	-1.276000	0.01395	GGA		0.403	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		20	150	0	0	0	1	0	20	150				
ANKRD45	339416	broad.mit.edu	37	1	173616137	173616137	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:173616137T>C	ENST00000333279.2	-	3	404	c.344A>G	c.(343-345)cAt>cGt	p.H115R		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	131										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TGCAGCACAATGTAAGAGTGT	0.413																																						ENST00000333279.2																			0				NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						c.(343-345)cAt>cGt		ankyrin repeat domain 45							101.0	95.0	97.0					1																	173616137		2203	4300	6503	SO:0001583	missense	339416							g.chr1:173616137T>C		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"""Ankyrin repeat domain containing"""	24786	protein-coding gene	gene with protein product	"""cancer/testis antigen 117"""						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.344A>G	1.37:g.173616137T>C	ENSP00000331268:p.His115Arg						p.H115R	NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN			3	404	-			131					A1A4G2|Q6ZST1	Missense_Mutation	SNP	ENST00000333279.2	37	c.344A>G	CCDS1309.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.692209	0.68271	.	.	ENSG00000183831	ENST00000333279	T	0.71461	-0.57	5.43	4.3	0.51218	Ankyrin repeat-containing domain (4);	0.061470	0.64402	N	0.000005	T	0.77611	0.4156	M	0.78637	2.42	0.46416	D	0.999034	D	0.89917	1.0	D	0.91635	0.999	T	0.80661	-0.1283	10	0.87932	D	0	-8.1681	10.271	0.43483	0.0:0.0791:0.0:0.9209	.	131	Q5TZF3	ANR45_HUMAN	R	115	ENSP00000331268:H115R	ENSP00000331268:H115R	H	-	2	0	ANKRD45	171882760	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.236000	0.65354	0.897000	0.36392	0.455000	0.32223	CAT		0.413	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493		26	53	0	0	0	1	0	26	53				
PAPPA2	60676	broad.mit.edu	37	1	176738779	176738779	+	Missense_Mutation	SNP	G	G	T	rs201948410		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:176738779G>T	ENST00000367662.3	+	16	5524	c.4360G>T	c.(4360-4362)Gac>Tac	p.D1454Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1454	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGGCACTGGGACCAGAATGT	0.473																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4360-4362)Gac>Tac		pappalysin 2							129.0	121.0	123.0					1																	176738779		1917	4129	6046	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738779G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4360G>T	1.37:g.176738779G>T	ENSP00000356634:p.Asp1454Tyr						p.D1454Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			16	5524	+			1454			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4360G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734486	0.69189	.	.	ENSG00000116183	ENST00000367662	T	0.77229	-1.08	6.17	2.25	0.28309	Sushi/SCR/CCP (1);	0.205843	0.49916	D	0.000126	T	0.77485	0.4137	M	0.62723	1.935	0.80722	D	1	D	0.54397	0.966	P	0.49421	0.61	T	0.77078	-0.2721	10	0.87932	D	0	-14.2023	9.3728	0.38264	0.3335:0.0:0.6665:0.0	.	1454	Q9BXP8	PAPP2_HUMAN	Y	1454	ENSP00000356634:D1454Y	ENSP00000356634:D1454Y	D	+	1	0	PAPPA2	175005402	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	2.986000	0.49370	0.477000	0.27464	0.655000	0.94253	GAC		0.473	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			29	66	1	0	1.68575e-08	1	1.82708e-08	29	66				
PHF21A	51317	broad.mit.edu	37	11	45992797	45992797	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:45992797G>T	ENST00000418153.2	-	7	681	c.482C>A	c.(481-483)gCc>gAc	p.A161D	PHF21A_ENST00000323180.6_Missense_Mutation_p.A161D|PHF21A_ENST00000257821.4_Missense_Mutation_p.A161D			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	161					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						ACTGTTGATGGCGGTCACCAT	0.547																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(481-483)gCc>gAc		PHD finger protein 21A							146.0	130.0	135.0					11																	45992797		2202	4299	6501	SO:0001583	missense	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45992797G>T	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.482C>A	11.37:g.45992797G>T	ENSP00000398824:p.Ala161Asp					PHF21A_ENST00000323180.6_Missense_Mutation_p.A161D|PHF21A_ENST00000418153.2_Missense_Mutation_p.A161D	p.A161D	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			7	1105	-			161					D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	37	c.482C>A	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276354	0.95459	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	D;D;D	0.96136	-3.5;-3.92;-3.5	5.79	5.79	0.91817	.	0.046751	0.85682	D	0.000000	D	0.96775	0.8947	L	0.56769	1.78	0.80722	D	1	D;D	0.67145	0.995;0.996	P;P	0.62298	0.856;0.9	D	0.95373	0.8466	10	0.31617	T	0.26	-8.097	20.0313	0.97540	0.0:0.0:1.0:0.0	.	161;161	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	D	161	ENSP00000257821:A161D;ENSP00000323152:A161D;ENSP00000398824:A161D	ENSP00000257821:A161D	A	-	2	0	PHF21A	45949373	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.822000	0.92013	2.746000	0.94184	0.655000	0.94253	GCC		0.547	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		14	133	1	0	3.45872e-05	1	3.59786e-05	14	133				
CACNA1B	774	broad.mit.edu	37	9	140901306	140901306	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr9:140901306T>A	ENST00000371372.1	+	16	2207	c.2062T>A	c.(2062-2064)Tac>Aac	p.Y688N	CACNA1B_ENST00000371363.1_Missense_Mutation_p.Y688N|CACNA1B_ENST00000371355.4_Missense_Mutation_p.Y689N|CACNA1B_ENST00000371357.1_Missense_Mutation_p.Y689N|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.Y688N	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	688					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCGTCCTTTTACTTCATTGT	0.562																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(2062-2064)Tac>Aac		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						150.0	149.0	149.0					9																	140901306		2142	4246	6388	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140901306T>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2062T>A	9.37:g.140901306T>A	ENSP00000360423:p.Tyr688Asn					CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.Y688N|CACNA1B_ENST00000371355.4_Missense_Mutation_p.Y689N|CACNA1B_ENST00000371357.1_Missense_Mutation_p.Y689N|CACNA1B_ENST00000371363.1_Missense_Mutation_p.Y688N	p.Y688N	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	16	2207	+	all_cancers(76;0.166)		688					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.2062T>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678626	0.68042	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28;-5.28	4.39	4.39	0.52855	.	0.208574	0.42682	D	0.000662	D	0.99384	0.9783	H	0.97611	4.04	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.68621	0.93;0.959	D	0.98476	1.0603	10	0.87932	D	0	.	12.892	0.58076	0.0:0.0:0.0:1.0	.	688;688	B1AQK4;B1AQK6	.;.	N	688;688;688;689;689	ENSP00000360423:Y688N;ENSP00000277551:Y688N;ENSP00000360414:Y688N;ENSP00000360408:Y689N;ENSP00000360406:Y689N	ENSP00000277551:Y688N	Y	+	1	0	CACNA1B	140021127	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	7.532000	0.81985	1.751000	0.51876	0.402000	0.26972	TAC		0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		3	24	0	0	0	1	0	3	24				
ASIC3	9311	broad.mit.edu	37	7	150746204	150746204	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:150746204G>A	ENST00000349064.5	+	1	430	c.232G>A	c.(232-234)Gag>Aag	p.E78K	ASIC3_ENST00000357922.4_Missense_Mutation_p.E78K|ASIC3_ENST00000297512.8_Missense_Mutation_p.E78K	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	78					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										TGCCCTGGATGAGCGAGAAAG	0.647																																						ENST00000357922.4																			0											c.(232-234)Gag>Aag		acid-sensing (proton-gated) ion channel 3							112.0	90.0	97.0					7																	150746204		2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746204G>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.232G>A	7.37:g.150746204G>A	ENSP00000344838:p.Glu78Lys					ASIC3_ENST00000349064.5_Missense_Mutation_p.E78K|ASIC3_ENST00000297512.8_Missense_Mutation_p.E78K	p.E78K	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			1	826	+			78					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.232G>A	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846401	0.91277	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.66460	-0.21;-0.21;-0.21	5.11	4.22	0.49857	.	0.000000	0.34223	U	0.004149	T	0.79191	0.4404	M	0.87269	2.87	0.32265	N	0.569686	D;D;D	0.71674	0.991;0.998;0.997	P;D;D	0.72075	0.904;0.976;0.967	T	0.79196	-0.1903	10	0.06365	T	0.9	-16.1978	11.5528	0.50731	0.0881:0.0:0.9119:0.0	.	78;78;78	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	K	78	ENSP00000350600:E78K;ENSP00000344838:E78K;ENSP00000297512:E78K	ENSP00000297512:E78K	E	+	1	0	ACCN3	150377137	1.000000	0.71417	0.971000	0.41717	0.966000	0.64601	7.592000	0.82676	1.292000	0.44672	0.561000	0.74099	GAG		0.647	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		32	42	0	0	0	1	0	32	42				
BMP2K	55589	broad.mit.edu	37	4	79793771	79793771	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr4:79793771C>T	ENST00000335016.5	+	13	1778	c.1612C>T	c.(1612-1614)Ccg>Tcg	p.P538S	BMP2K_ENST00000502871.1_Missense_Mutation_p.P538S	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	538	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TTTTCAGATGCCGCAGTATCA	0.423																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1612-1614)Ccg>Tcg		BMP2 inducible kinase							86.0	79.0	82.0					4																	79793771		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79793771C>T	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1612C>T	4.37:g.79793771C>T	ENSP00000334836:p.Pro538Ser					BMP2K_ENST00000502871.1_Missense_Mutation_p.P538S	p.P538S	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			13	1778	+			538			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1612C>T	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.79|14.79	2.640766|2.640766	0.47153|0.47153	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.72282	.|1.12;-0.64	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.367714	.|0.28151	.|N	.|0.016416	T|T	0.50429|0.50429	0.1615|0.1615	N|N	0.08118|0.08118	0|0	0.24613|0.24613	N|N	0.993712|0.993712	.|B;B	.|0.17038	.|0.006;0.02	.|B;B	.|0.19148	.|0.005;0.024	T|T	0.10567|0.10567	-1.0624|-1.0624	5|10	.|0.07990	.|T	.|0.79	-4.1689|-4.1689	17.5984|17.5984	0.88018|0.88018	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|538;538	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	V|S	230|538;538;552	.|ENSP00000421768:P538S;ENSP00000334836:P538S	.|ENSP00000264889:P552S	A|P	+|+	2|1	0|0	BMP2K|BMP2K	80012795|80012795	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.689000|0.689000	0.40095|0.40095	5.422000|5.422000	0.66453|0.66453	2.589000|2.589000	0.87451|0.87451	0.591000|0.591000	0.81541|0.81541	GCC|CCG		0.423	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		14	24	0	0	0	1	0	14	24				
ACP7	390928	broad.mit.edu	37	19	39589756	39589756	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr19:39589756G>A	ENST00000331256.5	+	4	753	c.479G>A	c.(478-480)gGc>gAc	p.G160D	PAPL_ENST00000594229.1_Missense_Mutation_p.G160D	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		160						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										ACCCAGCAGGGCATGTATGAC	0.716																																						ENST00000331256.5																			0											c.(478-480)gGc>gAc									36.0	42.0	40.0					19																	39589756		2203	4299	6502	SO:0001583	missense	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39589756G>A																												ENST00000331256.5:c.479G>A	19.37:g.39589756G>A	ENSP00000327557:p.Gly160Asp					PAPL_ENST00000594229.1_Missense_Mutation_p.G160D	p.G160D	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN			4	753	+			160					B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	c.479G>A	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246499	0.80024	.	.	ENSG00000183760	ENST00000331256	D	0.85411	-1.98	5.13	4.09	0.47781	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	L	0.42581	1.335	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.83972	0.0327	10	0.32370	T	0.25	-24.1582	7.9121	0.29798	0.1881:0.0:0.8119:0.0	.	160	Q6ZNF0	PAPL_HUMAN	D	160	ENSP00000327557:G160D	ENSP00000327557:G160D	G	+	2	0	AC011443.1	44281596	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.861000	0.69553	1.144000	0.42321	0.650000	0.86243	GGC		0.716	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			29	75	0	0	0	1	0	29	75				
DST	667	broad.mit.edu	37	6	56458967	56458967	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:56458967G>C	ENST00000361203.3	-	44	11594	c.11587C>G	c.(11587-11589)Cag>Gag	p.Q3863E	DST_ENST00000446842.2_Missense_Mutation_p.Q3539E|DST_ENST00000370754.5_Missense_Mutation_p.Q4043E|DST_ENST00000421834.2_Missense_Mutation_p.Q1777E|DST_ENST00000370788.2_Missense_Mutation_p.Q1777E|DST_ENST00000370769.4_Missense_Mutation_p.Q3865E|DST_ENST00000244364.6_Missense_Mutation_p.Q1451E|DST_ENST00000312431.6_Missense_Mutation_p.Q3863E			Q03001	DYST_HUMAN	dystonin	3863					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTTGGTGCTGAGAGATGATC	0.458																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(12127-12129)Cag>Gag		dystonin							173.0	161.0	165.0					6																	56458967		1989	4174	6163	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56458967G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11587C>G	6.37:g.56458967G>C	ENSP00000354508:p.Gln3863Glu					DST_ENST00000370788.2_Missense_Mutation_p.Q1777E|DST_ENST00000361203.3_Missense_Mutation_p.Q3863E|DST_ENST00000312431.6_Missense_Mutation_p.Q3863E|DST_ENST00000370769.4_Missense_Mutation_p.Q3865E|DST_ENST00000244364.6_Missense_Mutation_p.Q1451E|DST_ENST00000421834.2_Missense_Mutation_p.Q1777E|DST_ENST00000446842.2_Missense_Mutation_p.Q3539E	p.Q4043E			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		48	12126	-	Lung NSC(77;0.103)		3863					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.12127C>G		.	.	.	.	.	.	.	.	.	.	G	18.49	3.635329	0.67130	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;D;T;T	0.84442	0.97;-0.24;-0.28;-0.04;0.66;-1.85;-0.09;-0.32	5.55	5.55	0.83447	.	0.000000	0.51477	D	0.000082	D	0.91341	0.7269	M	0.79475	2.455	0.24938	N	0.991873	D;D;D;B;D	0.67145	0.965;0.992;0.996;0.256;0.995	P;D;D;B;D	0.85130	0.708;0.989;0.997;0.068;0.96	D	0.88486	0.3072	9	0.32370	T	0.25	.	19.8703	0.96847	0.0:0.0:1.0:0.0	.	1777;3865;4043;3863;1451	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	E	1451;4043;3865;1777;3539;3863;1777;3863	ENSP00000244364:Q1451E;ENSP00000359790:Q4043E;ENSP00000359805:Q3865E;ENSP00000400883:Q1777E;ENSP00000393645:Q3539E;ENSP00000307959:Q3863E;ENSP00000359824:Q1777E;ENSP00000354508:Q3863E	ENSP00000244364:Q1451E	Q	-	1	0	DST	56566926	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.370000	0.97159	2.770000	0.95276	0.650000	0.86243	CAG		0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		54	119	0	0	0	1	0	54	119				
ZMAT1	84460	broad.mit.edu	37	X	101139765	101139765	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chrX:101139765T>A	ENST00000372782.3	-	7	681	c.634A>T	c.(634-636)Aat>Tat	p.N212Y	ZMAT1_ENST00000540921.1_Missense_Mutation_p.N212Y|ZMAT1_ENST00000458570.1_Missense_Mutation_p.N41Y|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	212						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCCTTGAATTCTTCACTAGA	0.313																																						ENST00000458570.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(121-123)Aat>Tat		zinc finger, matrin-type 1							140.0	128.0	132.0					X																	101139765		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101139765T>A	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.634A>T	X.37:g.101139765T>A	ENSP00000361868:p.Asn212Tyr					ZMAT1_ENST00000372782.3_Missense_Mutation_p.N212Y|ZMAT1_ENST00000540921.1_Missense_Mutation_p.N212Y|ZMAT1_ENST00000494068.1_5'UTR	p.N41Y			A7MD47	A7MD47_HUMAN			9	1451	-			41					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.121A>T	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.722669	0.30503	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.26223	2.39;2.39;1.75	4.35	0.303	0.15791	.	1.053240	0.07480	N	0.903788	T	0.19167	0.0460	L	0.60455	1.87	0.27617	N	0.948471	B	0.15473	0.013	B	0.15052	0.012	T	0.37888	-0.9686	10	0.08599	T	0.76	-8.191	1.8081	0.03084	0.1645:0.0988:0.1671:0.5697	.	212	Q5H9K5	ZMAT1_HUMAN	Y	212;212;41	ENSP00000361868:N212Y;ENSP00000437529:N212Y;ENSP00000413044:N41Y	ENSP00000361868:N212Y	N	-	1	0	ZMAT1	101026421	1.000000	0.71417	0.987000	0.45799	0.944000	0.59088	2.128000	0.42045	-0.046000	0.13446	0.427000	0.28365	AAT		0.313	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			16	93	0	0	0	1	0	16	93				
NKD1	85407	broad.mit.edu	37	16	50642227	50642227	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:50642227G>T	ENST00000268459.3	+	4	439	c.215G>T	c.(214-216)aGa>aTa	p.R72I	RP11-401P9.6_ENST00000379963.1_RNA|NKD1_ENST00000564336.1_3'UTR	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	72					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GACGTGTTGAGAGACACGCTC	0.587																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(214-216)aGa>aTa		naked cuticle homolog 1 (Drosophila)							182.0	160.0	167.0					16																	50642227		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50642227G>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.215G>T	16.37:g.50642227G>T	ENSP00000268459:p.Arg72Ile					NKD1_ENST00000564336.1_3'UTR|RP11-401P9.6_ENST00000379963.1_RNA	p.R72I	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	4	439	+		all_cancers(37;0.229)	72					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.215G>T	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977695	0.34848	.	.	ENSG00000140807	ENST00000268459	T	0.65364	-0.15	4.69	4.69	0.59074	.	0.350989	0.29908	N	0.010888	T	0.72953	0.3525	L	0.47716	1.5	0.54753	D	0.999988	D	0.69078	0.997	D	0.78314	0.991	T	0.75665	-0.3239	10	0.72032	D	0.01	-7.5809	14.7049	0.69183	0.0:0.0:1.0:0.0	.	72	Q969G9	NKD1_HUMAN	I	72	ENSP00000268459:R72I	ENSP00000268459:R72I	R	+	2	0	NKD1	49199728	1.000000	0.71417	0.997000	0.53966	0.033000	0.12548	4.694000	0.61760	2.290000	0.77057	0.655000	0.94253	AGA		0.587	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			36	84	1	0	3.61848e-18	1	4.30885e-18	36	84				
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral component of membrane (GO:0016021)		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682																																						ENST00000354323.2																			1	Substitution - Missense(1)	p.H92P(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(274-276)cAc>cCc		histidine rich carboxyl terminus 1							24.0	19.0	20.0					9																	35906559		2189	4276	6465	SO:0001583	missense	646962					integral to membrane		g.chr9:35906559A>C		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.275A>C	9.37:g.35906559A>C	ENSP00000346283:p.His92Pro						p.H92P	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	371	+			92			His-rich.		B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	c.275A>C	CCDS35012.1	.	.	.	.	.	.	.	.	.	.	A	6.244	0.413193	0.11812	.	.	ENSG00000196196	ENST00000354323	.	.	.	2.44	-4.88	0.03113	.	2.969780	0.02194	N	0.061627	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12682	-1.0538	9	0.87932	D	0	-35.0854	0.2739	0.00235	0.2845:0.1811:0.2905:0.2438	.	92	Q6UXD1	HRCT1_HUMAN	P	92	.	ENSP00000346283:H92P	H	+	2	0	HRCT1	35896559	0.200000	0.23398	0.000000	0.03702	0.183000	0.23260	0.845000	0.27668	-1.085000	0.03088	0.383000	0.25322	CAC		0.682	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		7	18	0	0	0	1	0	7	18				
GPR98	84059	broad.mit.edu	37	5	89981640	89981640	+	Silent	SNP	G	G	A	rs190981860	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:89981640G>A	ENST00000405460.2	+	29	6414	c.6318G>A	c.(6316-6318)gcG>gcA	p.A2106A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2106					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.A2106A(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAACTATTGCGCAACTAATTA	0.413													G|||	24	0.00479233	0.0015	0.0014	5008	,	,		12678	0.0		0.002	False		,,,				2504	0.0194					ENST00000405460.2																			1	Substitution - coding silent(1)	p.A2106A(1)	central_nervous_system(1)	NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6316-6318)gcG>gcA		G protein-coupled receptor 98		G		0,3812		0,0,1906	108.0	96.0	100.0		6318	-3.4	0.3	5		100	20,8230		0,20,4105	no	coding-synonymous	GPR98	NM_032119.3		0,20,6011	AA,AG,GG		0.2424,0.0,0.1658		2106/6307	89981640	20,12042	1906	4125	6031	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89981640G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6318G>A	5.37:g.89981640G>A							p.A2106A	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	29	6414	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2106					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.6318G>A	CCDS47246.1																																																																																				0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		16	16	0	0	0	1	0	16	16				
DACT1	51339	broad.mit.edu	37	14	59113333	59113333	+	Silent	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:59113333G>T	ENST00000335867.4	+	4	2016	c.1992G>T	c.(1990-1992)gcG>gcT	p.A664A	DACT1_ENST00000556859.1_Silent_p.A383A|DACT1_ENST00000395153.3_Silent_p.A627A|DACT1_ENST00000541264.2_Silent_p.A383A			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	664					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GACGGGAGGCGGTGGTGGCCA	0.721																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1879-1881)gcG>gcT		dishevelled-binding antagonist of beta-catenin 1							10.0	9.0	10.0					14																	59113333		2191	4275	6466	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113333G>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1992G>T	14.37:g.59113333G>T						DACT1_ENST00000556859.1_Silent_p.A383A|DACT1_ENST00000395151.3_Silent_p.A383A|DACT1_ENST00000335867.4_Silent_p.A664A|DACT1_ENST00000541264.2_Silent_p.A383A	p.A627A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	2028	+			664					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.1881G>T	CCDS9736.1																																																																																				0.721	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		6	9	1	0	3.59834e-05	1	3.72171e-05	6	9				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443781	81443781	+	RNA	SNP	A	A	T	rs575925424	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr10:81443781A>T	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GACCACAAAGACGAGGAGGAG	0.622													a|||	14	0.00279553	0.0053	0.0029	5008	,	,		19344	0.002		0.002	False		,,,				2504	0.001					ENST00000600376.1																			0																																																			101060691							g.chr10:81443781A>T																													10.37:g.81443781A>T						RP11-119F19.2_ENST00000596088.1_RNA								0	54	-									RNA	SNP	ENST00000600376.1	37																																																																																						0.622	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			4	9	0	0	0	1	0	4	9				
SLCO2B1	11309	broad.mit.edu	37	11	74914426	74914426	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:74914426C>T	ENST00000289575.5	+	13	2298	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R613C|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R519C|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R491C|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R408C|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R408C	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	635					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	GAGCTGTGGGCGTCGAGCTGT	0.602																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1903-1905)Cgt>Tgt		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						166.0	135.0	146.0					11																	74914426		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74914426C>T	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1903C>T	11.37:g.74914426C>T	ENSP00000289575:p.Arg635Cys					SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R491C|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R519C|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R408C|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R613C|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R408C	p.R635C	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			13	2298	+			635					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1903C>T	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379182	0.61735	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.24	4.24	0.50183	Major facilitator superfamily domain, general substrate transporter (1);	0.733388	0.13179	N	0.407700	T	0.51839	0.1698	L	0.52573	1.65	0.18873	N	0.999983	D;D;D	0.64830	0.994;0.992;0.994	P;P;P	0.56788	0.806;0.59;0.713	T	0.39683	-0.9602	10	0.59425	D	0.04	.	11.8005	0.52124	0.187:0.813:0.0:0.0	.	491;408;635	E9PPU8;O94956-2;O94956	.;.;SO2B1_HUMAN	C	635;408;519;491;408;613	ENSP00000289575:R635C;ENSP00000341286:R408C;ENSP00000434112:R519C;ENSP00000436324:R491C;ENSP00000389653:R408C;ENSP00000388912:R613C	ENSP00000289575:R635C	R	+	1	0	SLCO2B1	74592074	0.007000	0.16637	0.682000	0.30024	0.878000	0.50629	0.366000	0.20365	2.444000	0.82710	0.650000	0.86243	CGT		0.602	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		52	127	0	0	0	1	0	52	127				
CD1E	913	broad.mit.edu	37	1	158323796	158323796	+	Silent	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:158323796C>T	ENST00000368167.3	+	1	257	c.18C>T	c.(16-18)ctC>ctT	p.L6L	CD1E_ENST00000368156.1_Silent_p.L6L|CD1E_ENST00000368163.3_Silent_p.L6L|CD1E_ENST00000368155.3_Silent_p.L6L|CD1E_ENST00000368165.3_Silent_p.L6L|CD1E_ENST00000368160.3_Silent_p.L6L|CD1E_ENST00000368164.3_Silent_p.L6L|CD1E_ENST00000368161.3_Silent_p.L6L|CD1E_ENST00000368154.1_Silent_p.L6L|CD1E_ENST00000368157.1_Silent_p.L6L|CD1E_ENST00000368166.3_Silent_p.L6L|CD1E_ENST00000452291.2_Silent_p.L6L|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000444681.2_Silent_p.L6L	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	6					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCCTGTTCCTCCTCTTCGAGG	0.517																																						ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(16-18)ctC>ctT		CD1e molecule							93.0	90.0	91.0					1																	158323796		1928	4129	6057	SO:0001819	synonymous_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158323796C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.18C>T	1.37:g.158323796C>T						CD1E_ENST00000368167.3_Silent_p.L6L|CD1E_ENST00000368164.3_Silent_p.L6L|CD1E_ENST00000368160.3_Silent_p.L6L|CD1E_ENST00000368156.1_Silent_p.L6L|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368163.3_Silent_p.L6L|CD1E_ENST00000452291.2_Silent_p.L6L|CD1E_ENST00000368161.3_Silent_p.L6L|CD1E_ENST00000368165.3_Silent_p.L6L|CD1E_ENST00000368166.3_Silent_p.L6L|CD1E_ENST00000368154.1_Silent_p.L6L|CD1E_ENST00000368157.1_Silent_p.L6L|CD1E_ENST00000368155.3_Silent_p.L6L	p.L6L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			1	311	+	all_hematologic(112;0.0378)		6					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	c.18C>T	CCDS41417.1																																																																																				0.517	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		22	35	0	0	0	1	0	22	35				
RINT1	60561	broad.mit.edu	37	7	105182869	105182869	+	Silent	SNP	A	A	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:105182869A>T	ENST00000257700.2	+	4	519	c.288A>T	c.(286-288)tcA>tcT	p.S96S	RINT1_ENST00000477285.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	96					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTACAATTTCATCAGAAATTC	0.318																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(286-288)tcA>tcT		RAD50 interactor 1							44.0	49.0	47.0					7																	105182869		2195	4299	6494	SO:0001819	synonymous_variant	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105182869A>T	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.288A>T	7.37:g.105182869A>T						RINT1_ENST00000477285.1_3'UTR	p.S96S	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			4	519	+			96					Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Silent	SNP	ENST00000257700.2	37	c.288A>T	CCDS34726.1																																																																																				0.318	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		45	45	0	0	0	1	0	45	45				
RRN3P1	730092	broad.mit.edu	37	16	21812153	21812153	+	RNA	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:21812153G>T	ENST00000546471.1	-	0	1705							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		ATGCCTCTGCGAATCCCTATA	0.388																																						ENST00000546471.1																			0																																																			730092							g.chr16:21812153G>T			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21812153G>T														0	1705	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.388	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		27	34	1	0	8.58068e-18	1	1.0151e-17	27	34				
NUP107	57122	broad.mit.edu	37	12	69135728	69135728	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr12:69135728A>G	ENST00000229179.4	+	27	2970	c.2638A>G	c.(2638-2640)Atg>Gtg	p.M880V	NUP107_ENST00000378905.2_Missense_Mutation_p.M641V|NUP107_ENST00000539906.1_Missense_Mutation_p.M851V	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	880					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTTAGCAGATATGGTATCCTC	0.378																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(2638-2640)Atg>Gtg		nucleoporin 107kDa							190.0	169.0	176.0					12																	69135728		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69135728A>G	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2638A>G	12.37:g.69135728A>G	ENSP00000229179:p.Met880Val					NUP107_ENST00000378905.2_Missense_Mutation_p.M641V|NUP107_ENST00000539906.1_Missense_Mutation_p.M851V	p.M880V	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		27	2970	+	Breast(13;6.25e-06)		880					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.2638A>G	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	A	3.540	-0.093848	0.07053	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.51	5.51	0.81932	.	0.178379	0.64402	D	0.000007	T	0.13884	0.0336	N	0.01624	-0.795	0.23215	N	0.998106	B;B;B	0.12630	0.0;0.006;0.0	B;B;B	0.15484	0.001;0.013;0.001	T	0.18241	-1.0343	8	.	.	.	-21.4819	11.6674	0.51381	0.8674:0.0:0.0:0.1326	.	851;641;880	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	V	880;641;851	.	.	M	+	1	0	NUP107	67421995	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.162000	0.58177	2.243000	0.73865	0.533000	0.62120	ATG		0.378	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		33	41	0	0	0	1	0	33	41				
ZNF664	144348	broad.mit.edu	37	12	124496861	124496861	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr12:124496861A>G	ENST00000539644.1	+	6	2000	c.170A>G	c.(169-171)aAg>aGg	p.K57R	ZNF664_ENST00000337815.4_Missense_Mutation_p.K57R|ZNF664_ENST00000392404.3_Missense_Mutation_p.K57R|ZNF664_ENST00000538932.2_Missense_Mutation_p.K57R|FAM101A_ENST00000545615.1_Intron			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	57					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)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		ACAGGAGAGAAGGTCTATAAA	0.363																																						ENST00000539644.1																			0				breast(1)|large_intestine(5)|lung(6)|skin(1)	13						c.(169-171)aAg>aGg		zinc finger protein 664							91.0	100.0	97.0					12																	124496861		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124496861A>G		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.170A>G	12.37:g.124496861A>G	ENSP00000441405:p.Lys57Arg					RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.K57R|ZNF664_ENST00000337815.4_Missense_Mutation_p.K57R|ZNF664_ENST00000392404.3_Missense_Mutation_p.K57R	p.K57R			Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2000	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		57					B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.170A>G	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339474	0.60963	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.22	4.22	0.49857	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000702	T	0.27278	0.0669	M	0.66439	2.03	0.30771	N	0.742995	B	0.34372	0.451	B	0.38880	0.284	T	0.22068	-1.0227	9	.	.	.	-32.5428	6.5087	0.22210	0.8948:0.0:0.1052:0.0	.	57	Q8N3J9	ZN664_HUMAN	R	57	ENSP00000441405:K57R;ENSP00000376205:K57R;ENSP00000440645:K57R;ENSP00000337320:K57R	.	K	+	2	0	ZNF664	123062814	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.550000	0.36223	2.122000	0.65172	0.533000	0.62120	AAG		0.363	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		32	47	0	0	0	1	0	32	47				
MOCS1	4337	broad.mit.edu	37	6	39877612	39877612	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:39877612C>T	ENST00000340692.5	-	9	1072	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	MOCS1_ENST00000373175.4_Missense_Mutation_p.A328T|MOCS1_ENST00000425303.2_Missense_Mutation_p.A357T|MOCS1_ENST00000373195.3_Missense_Mutation_p.A270T|MOCS1_ENST00000308559.7_Missense_Mutation_p.A357T|MOCS1_ENST00000432280.2_Missense_Mutation_p.A328T|MOCS1_ENST00000373186.4_Missense_Mutation_p.A357T|MOCS1_ENST00000373188.2_Missense_Mutation_p.A357T			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	357	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)					CCCACAGCAGCCCCAATGATT	0.622																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			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.(1069-1071)Gct>Act		molybdenum cofactor synthesis 1							114.0	102.0	106.0					6																	39877612		2203	4300	6503	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.chr6:39877612C>T	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.1069G>A	6.37:g.39877612C>T	ENSP00000344794:p.Ala357Thr					MOCS1_ENST00000373195.3_Missense_Mutation_p.A270T|MOCS1_ENST00000373188.2_Missense_Mutation_p.A357T|MOCS1_ENST00000425303.2_Missense_Mutation_p.A357T|MOCS1_ENST00000340692.5_Missense_Mutation_p.A357T|MOCS1_ENST00000373175.4_Missense_Mutation_p.A328T|MOCS1_ENST00000308559.7_Missense_Mutation_p.A357T|MOCS1_ENST00000432280.2_Missense_Mutation_p.A328T	p.A357T	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN			8	1206	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		357			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.1069G>A		.	.	.	.	.	.	.	.	.	.	C	15.69	2.908114	0.52333	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	4.98	4.98	0.66077	Molybdenum cofactor synthesis C-terminal (1);	0.109365	0.64402	D	0.000010	D	0.88070	0.6338	M	0.73217	2.22	0.51767	D	0.999936	P;P;P;P;P	0.42337	0.735;0.609;0.776;0.735;0.454	B;B;P;B;B	0.45794	0.36;0.287;0.493;0.36;0.287	D	0.88004	0.2758	9	.	.	.	-7.0908	17.8476	0.88734	0.0:1.0:0.0:0.0	.	357;357;357;357;357	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	T	357;357;328;357;270;357;357;328	ENSP00000362282:A357T;ENSP00000309843:A357T;ENSP00000362270:A328T;ENSP00000362284:A357T;ENSP00000362291:A270T;ENSP00000344794:A357T;ENSP00000416478:A357T;ENSP00000410809:A328T	.	A	-	1	0	MOCS1	39985590	1.000000	0.71417	0.808000	0.32385	0.141000	0.21300	4.784000	0.62411	2.290000	0.77057	0.557000	0.71058	GCT		0.622	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		18	160	0	0	0	1	0	18	160				
IGSF10	285313	broad.mit.edu	37	3	151161641	151161641	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr3:151161641G>T	ENST00000282466.3	-	5	5093	c.5094C>A	c.(5092-5094)agC>agA	p.S1698R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1698	Ig-like C2-type 3.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGGACCCTGCTATTCTGTT	0.428																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(5092-5094)agC>agA		immunoglobulin superfamily, member 10							48.0	45.0	46.0					3																	151161641		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151161641G>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5094C>A	3.37:g.151161641G>T	ENSP00000282466:p.Ser1698Arg						p.S1698R	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		5	5093	-			1698			Ig-like C2-type 3.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.5094C>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298800	0.40694	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.79749	-1.3	5.25	4.36	0.52297	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.108006	0.41500	D	0.000864	T	0.72645	0.3486	N	0.20483	0.58	0.19300	N	0.999974	P	0.40619	0.724	P	0.46850	0.529	T	0.63989	-0.6512	9	.	.	.	.	11.6741	0.51419	0.1419:0.0:0.8581:0.0	.	1698	Q6WRI0	IGS10_HUMAN	R	1698;325	ENSP00000282466:S1698R	.	S	-	3	2	IGSF10	152644331	0.969000	0.33509	0.675000	0.29917	0.683000	0.39861	1.510000	0.35790	2.458000	0.83093	0.585000	0.79938	AGC		0.428	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		14	39	1	0	0.000308642	1	0.000313844	14	39				
MYO5B	4645	broad.mit.edu	37	18	47428976	47428976	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr18:47428976C>A	ENST00000285039.7	-	21	3098	c.2799G>T	c.(2797-2799)aaG>aaT	p.K933N	MYO5B_ENST00000324581.6_Missense_Mutation_p.K74N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	933					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCTCATCGATCTTCCGCTGCA	0.592																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(2797-2799)aaG>aaT		myosin VB							66.0	70.0	68.0					18																	47428976		2076	4210	6286	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47428976C>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2799G>T	18.37:g.47428976C>A	ENSP00000285039:p.Lys933Asn					MYO5B_ENST00000324581.6_Missense_Mutation_p.K74N	p.K933N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	21	3098	-			933					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.2799G>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124577	0.77436	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.26067	1.76;1.76	5.63	4.76	0.60689	.	0.054091	0.64402	D	0.000001	T	0.42921	0.1224	L	0.42245	1.32	0.58432	D	0.999997	P;D	0.89917	0.483;1.0	B;D	0.85130	0.196;0.997	T	0.26916	-1.0089	10	0.48119	T	0.1	.	14.5514	0.68070	0.0:0.929:0.0:0.071	.	933;74	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	N	933;74	ENSP00000285039:K933N;ENSP00000315531:K74N	ENSP00000285039:K933N	K	-	3	2	MYO5B	45682974	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	1.915000	0.39976	1.529000	0.49120	0.655000	0.94253	AAG		0.592	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			37	46	1	0	9.45814e-24	1	1.13372e-23	37	46				
DPYD	1806	broad.mit.edu	37	1	97770841	97770841	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:97770841T>C	ENST00000370192.3	-	18	2373	c.2273A>G	c.(2272-2274)aAg>aGg	p.K758R	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	758					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGTAGTTCGCTTTGCAATCCC	0.488																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2272-2274)aAg>aGg		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						214.0	174.0	187.0					1																	97770841		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97770841T>C	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2273A>G	1.37:g.97770841T>C	ENSP00000359211:p.Lys758Arg					DPYD-AS1_ENST00000422980.1_RNA	p.K758R	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	18	2373	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	758					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2273A>G	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	T	8.747	0.920416	0.17982	.	.	ENSG00000188641	ENST00000370192	T	0.75050	-0.9	5.55	4.39	0.52855	Aldolase-type TIM barrel (1);	0.175872	0.48767	N	0.000176	T	0.46795	0.1411	L	0.48642	1.525	0.80722	D	1	B	0.06786	0.001	B	0.14578	0.011	T	0.47911	-0.9080	10	0.33940	T	0.23	-11.7322	5.247	0.15502	0.1397:0.1464:0.0:0.714	.	758	Q12882	DPYD_HUMAN	R	758	ENSP00000359211:K758R	ENSP00000359211:K758R	K	-	2	0	DPYD	97543429	1.000000	0.71417	0.983000	0.44433	0.278000	0.26855	2.655000	0.46707	0.997000	0.38969	0.477000	0.44152	AAG		0.488	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		50	37	0	0	0	1	0	50	37				
ADAM2	2515	broad.mit.edu	37	8	39613376	39613376	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:39613376T>G	ENST00000265708.4	-	16	1771	c.1668A>C	c.(1666-1668)caA>caC	p.Q556H	ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.Q537H|AC136365.1_ENST00000408091.1_RNA	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	556	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTCTTGGAATTTGTAATAAAA	0.303																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1666-1668)caA>caC		ADAM metallopeptidase domain 2							64.0	68.0	67.0					8																	39613376		2202	4298	6500	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39613376T>G	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1668A>C	8.37:g.39613376T>G	ENSP00000265708:p.Gln556His					ADAM2_ENST00000347580.4_Missense_Mutation_p.Q537H|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Intron	p.Q556H	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	16	1771	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	556			Cys-rich.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1668A>C	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	2.209	-0.381210	0.05000	.	.	ENSG00000104755	ENST00000347580;ENST00000265708	T;T	0.22336	1.96;1.96	4.57	-1.74	0.08056	ADAM, cysteine-rich (2);	.	.	.	.	T	0.12092	0.0294	L	0.29908	0.895	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.11329	0.004;0.006	T	0.35375	-0.9791	8	.	.	.	.	5.5972	0.17333	0.3189:0.0:0.1267:0.5544	.	537;556	Q99965-2;Q99965	.;ADAM2_HUMAN	H	537;556	ENSP00000343854:Q537H;ENSP00000265708:Q556H	.	Q	-	3	2	ADAM2	39732533	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.668000	0.05268	-0.113000	0.11958	0.533000	0.62120	CAA		0.303	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		10	36	0	0	0	1	0	10	36				
UFL1	23376	broad.mit.edu	37	6	96984253	96984253	+	Silent	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:96984253G>A	ENST00000369278.4	+	8	855	c.789G>A	c.(787-789)caG>caA	p.Q263Q		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	263					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										TTTTCAGGCAGAATGGCTATC	0.383																																						ENST00000369278.4																			0											c.(787-789)caG>caA		UFM1-specific ligase 1							174.0	157.0	163.0					6																	96984253		2203	4300	6503	SO:0001819	synonymous_variant	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96984253G>A	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.789G>A	6.37:g.96984253G>A							p.Q263Q	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			8	855	+			263					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	c.789G>A	CCDS5034.1																																																																																				0.383	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		24	57	0	0	0	1	0	24	57				
MUC17	140453	broad.mit.edu	37	7	100686989	100686989	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:100686989C>A	ENST00000306151.4	+	3	12356	c.12292C>A	c.(12292-12294)Ccc>Acc	p.P4098T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4098					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGGACAAAACCCAGCACACG	0.557																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(12292-12294)Ccc>Acc		mucin 17, cell surface associated							213.0	196.0	202.0					7																	100686989		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686989C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12292C>A	7.37:g.100686989C>A	ENSP00000302716:p.Pro4098Thr						p.P4098T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	12356	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4098					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12292C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.566	-0.843081	0.02671	.	.	ENSG00000169876	ENST00000306151	T	0.01787	4.64	1.2	-0.959	0.10343	.	.	.	.	.	T	0.00967	0.0032	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48456	-0.9034	9	0.07990	T	0.79	.	3.5346	0.07789	0.0:0.4375:0.0:0.5625	.	4098	Q685J3	MUC17_HUMAN	T	4098	ENSP00000302716:P4098T	ENSP00000302716:P4098T	P	+	1	0	MUC17	100473709	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.115000	0.10741	-0.146000	0.11274	0.478000	0.44815	CCC		0.557	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		22	204	1	0	5.35356e-11	1	5.9085e-11	22	204				
IBTK	25998	broad.mit.edu	37	6	82910367	82910367	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:82910367T>C	ENST00000306270.7	-	20	3398	c.2849A>G	c.(2848-2850)tAt>tGt	p.Y950C	IBTK_ENST00000503631.1_Missense_Mutation_p.Y749C|IBTK_ENST00000510291.1_Missense_Mutation_p.Y950C	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	950					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TACTTCCAAATAGCTAATATC	0.313																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(2848-2850)tAt>tGt		inhibitor of Bruton agammaglobulinemia tyrosine kinase							66.0	65.0	65.0					6																	82910367		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82910367T>C	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2849A>G	6.37:g.82910367T>C	ENSP00000305721:p.Tyr950Cys					IBTK_ENST00000510291.1_Missense_Mutation_p.Y950C|IBTK_ENST00000503631.1_Missense_Mutation_p.Y749C	p.Y950C	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	20	3398	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	950					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.2849A>G	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440668	0.25900	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.27720	1.97;1.65;1.98	5.83	-0.914	0.10497	.	0.638246	0.16881	N	0.195700	T	0.03477	0.0100	N	0.08118	0	0.20873	N	0.999836	B;B;B;B	0.10296	0.003;0.0;0.002;0.0	B;B;B;B	0.08055	0.003;0.001;0.002;0.002	T	0.38178	-0.9673	10	0.36615	T	0.2	-2.0517	2.363	0.04312	0.1048:0.3142:0.2164:0.3645	.	749;950;950;950	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	C	950;749;950	ENSP00000305721:Y950C;ENSP00000422762:Y749C;ENSP00000426405:Y950C	ENSP00000305721:Y950C	Y	-	2	0	IBTK	82967086	0.984000	0.35163	0.978000	0.43139	0.998000	0.95712	0.008000	0.13197	-0.372000	0.07992	0.533000	0.62120	TAT		0.313	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		7	22	0	0	0	1	0	7	22				
ASPH	444	broad.mit.edu	37	8	62430206	62430206	+	Silent	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:62430206G>A	ENST00000379454.4	-	24	2194	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	ASPH_ENST00000541428.1_Silent_p.I640I	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	669					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CGGGGTGCATGATGGAATATT	0.493																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1918-1920)atC>atT		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						97.0	91.0	93.0					8																	62430206		2203	4300	6503	SO:0001819	synonymous_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62430206G>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2007C>T	8.37:g.62430206G>A						ASPH_ENST00000379454.4_Silent_p.I669I	p.I640I	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			24	2080	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	669					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	ENST00000379454.4	37	c.1920C>T	CCDS34898.1																																																																																				0.493	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		18	55	0	0	0	1	0	18	55				
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.I261V(1)	kidney(1)																																																692099							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C								NR_024241.1						0	820	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		3	41	0	0	0	1	0	3	41				
GPR75-ASB3	100302652	broad.mit.edu	37	2	53956626	53956626	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:53956626C>T	ENST00000263634.3	-	4	571	c.437G>A	c.(436-438)gGa>gAa	p.G146E	GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.G184E|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.G73E|ASB3_ENST00000406625.2_Missense_Mutation_p.G181E|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.G73E|ASB3_ENST00000498475.2_5'UTR	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		GGAGTTCCATCCACACATAGA	0.383																																						ENST00000263634.3																			0											c.(436-438)gGa>gAa									145.0	131.0	136.0					2																	53956626		2203	4300	6503	SO:0001583	missense	100302652				intracellular signal transduction			g.chr2:53956626C>T		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.437G>A	2.37:g.53956626C>T	ENSP00000263634:p.Gly146Glu					GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.G184E|ASB3_ENST00000498475.2_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.G181E|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.G73E|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.G73E	p.G146E	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN			4	571	-			181						Missense_Mutation	SNP	ENST00000263634.3	37	c.437G>A	CCDS1846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.02|15.02	2.708779|2.708779	0.48517|0.48517	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846|ENST00000406053	T;T;T;T;T|.	0.73575|.	-0.76;-0.76;-0.76;-0.76;-0.76|.	5.68|5.68	4.81|4.81	0.61882|0.61882	Ankyrin repeat-containing domain (4);|.	0.049497|.	0.85682|.	D|.	0.000000|.	T|.	0.72277|.	0.3440|.	M|M	0.85099|0.85099	2.735|2.735	0.41460|.	D|.	0.988037|.	P;P|.	0.44260|.	0.791;0.83|.	B;B|.	0.43155|.	0.41;0.41|.	T|.	0.81230|.	-0.1027|.	9|.	0.62326|.	D|.	0.03|.	.|.	11.53|11.53	0.50604|0.50604	0.0:0.8542:0.0:0.1458|0.0:0.8542:0.0:0.1458	.|.	181;146|.	Q2TAI4;Q9Y575|.	.;ASB3_HUMAN|.	E|X	146;181;73;73;184|138	ENSP00000263634:G146E;ENSP00000385085:G181E;ENSP00000384728:G73E;ENSP00000378206:G73E;ENSP00000313756:G184E|.	ENSP00000263634:G146E|.	G|W	-|-	2|3	0|0	ASB3|ASB3	53810130|53810130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.071000|3.071000	0.50041|0.50041	1.408000|1.408000	0.46895|0.46895	0.563000|0.563000	0.77884|0.77884	GGA|TGG		0.383	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			18	62	0	0	0	1	0	18	62				
MTG2	26164	broad.mit.edu	37	20	60775784	60775784	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr20:60775784G>A	ENST00000370823.3	+	7	890	c.872G>A	c.(871-873)gGt>gAt	p.G291D	MTG2_ENST00000536470.1_Missense_Mutation_p.G63D|MTG2_ENST00000436421.2_Missense_Mutation_p.G133D	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	291	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										CAGAACAGGGGTCTGGGGTCC	0.607																																						ENST00000370823.3																			0											c.(871-873)gGt>gAt		mitochondrial ribosome-associated GTPase 2							85.0	92.0	90.0					20																	60775784		2203	4300	6503	SO:0001583	missense	26164							g.chr20:60775784G>A	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.872G>A	20.37:g.60775784G>A	ENSP00000359859:p.Gly291Asp					MTG2_ENST00000536470.1_Missense_Mutation_p.G63D|MTG2_ENST00000436421.2_Missense_Mutation_p.G133D	p.G291D	NM_015666.3	NP_056481.1					7	890	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	c.872G>A	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077550	0.94000	.	.	ENSG00000101181	ENST00000536470;ENST00000436421;ENST00000370823	T;T;T	0.21191	2.02;2.02;2.02	5.67	5.67	0.87782	Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.72534	-0.4264	10	0.87932	D	0	-34.9175	19.7782	0.96405	0.0:0.0:1.0:0.0	.	133;291	E7EU10;Q9H4K7	.;GTPB5_HUMAN	D	63;133;291	ENSP00000445056:G63D;ENSP00000392267:G133D;ENSP00000359859:G291D	ENSP00000359859:G291D	G	+	2	0	GTPBP5	60209179	1.000000	0.71417	0.998000	0.56505	0.680000	0.39746	9.020000	0.93667	2.667000	0.90743	0.561000	0.74099	GGT		0.607	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		83	130	0	0	0	1	0	83	130				
DNAJC21	134218	broad.mit.edu	37	5	34937698	34937698	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:34937698G>A	ENST00000342382.4	+	5	933	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	DNAJC21_ENST00000382021.2_Missense_Mutation_p.E236K|DNAJC21_ENST00000303525.7_Missense_Mutation_p.E236K			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	236	Glu-rich.				protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GAGGAAAGCCGAAGAGATGAG	0.542																																						ENST00000382021.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(706-708)Gaa>Aaa		DnaJ (Hsp40) homolog, subfamily C, member 21							69.0	74.0	72.0					5																	34937698		2203	4300	6503	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34937698G>A		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.706G>A	5.37:g.34937698G>A	ENSP00000343728:p.Glu236Lys					DNAJC21_ENST00000303525.7_Missense_Mutation_p.E236K|DNAJC21_ENST00000342382.4_Missense_Mutation_p.E236K	p.E236K	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		5	933	+	all_lung(31;7.08e-05)		236			Glu-rich.		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.706G>A	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243764	0.95272	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.51071	0.74;0.72;0.72	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	L	0.41027	1.25	0.80722	D	1	D;P;D	0.89917	0.969;0.89;1.0	P;B;D	0.85130	0.569;0.234;0.997	T	0.50423	-0.8830	10	0.19590	T	0.45	-19.1545	19.8228	0.96604	0.0:0.0:1.0:0.0	.	236;236;236	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	K	236	ENSP00000343728:E236K;ENSP00000371451:E236K;ENSP00000306289:E236K	ENSP00000306289:E236K	E	+	1	0	DNAJC21	34973455	1.000000	0.71417	0.554000	0.28268	0.675000	0.39556	6.275000	0.72594	2.759000	0.94783	0.650000	0.86243	GAA		0.542	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		38	86	0	0	0	1	0	38	86				
NCAPH	23397	broad.mit.edu	37	2	97025968	97025968	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:97025968T>C	ENST00000240423.4	+	11	1488	c.1445T>C	c.(1444-1446)gTa>gCa	p.V482A	NCAPH_ENST00000427946.1_Missense_Mutation_p.V346A|NCAPH_ENST00000455200.1_Missense_Mutation_p.V471A	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	482					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GACTTTGATGTATATTTTAGA	0.289																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1411-1413)gTa>gCa		non-SMC condensin I complex, subunit H							57.0	63.0	61.0					2																	97025968		2201	4300	6501	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97025968T>C	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1445T>C	2.37:g.97025968T>C	ENSP00000240423:p.Val482Ala					NCAPH_ENST00000427946.1_Missense_Mutation_p.V346A|NCAPH_ENST00000240423.4_Missense_Mutation_p.V482A	p.V471A			Q15003	CND2_HUMAN			11	1707	+		Ovarian(717;0.0221)	482					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.1412T>C	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	T	8.689	0.907019	0.17833	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.73	0.168	0.15012	.	0.712652	0.14238	N	0.332248	T	0.24699	0.0599	L	0.37561	1.115	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.003	B;B;B	0.14578	0.01;0.011;0.011	T	0.28202	-1.0051	10	0.08381	T	0.77	-3.3618	5.6704	0.17719	0.0:0.2681:0.1411:0.5909	.	458;471;482	B4DRG7;E9PHA2;Q15003	.;.;CND2_HUMAN	A	482;346;471;471	ENSP00000240423:V482A;ENSP00000400774:V346A;ENSP00000405237:V471A;ENSP00000407308:V471A	ENSP00000240423:V482A	V	+	2	0	NCAPH	96389695	0.000000	0.05858	0.281000	0.24762	0.861000	0.49209	-0.368000	0.07543	0.110000	0.17919	0.460000	0.39030	GTA		0.289	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		12	31	0	0	0	1	0	12	31				
OLAH	55301	broad.mit.edu	37	10	15106498	15106498	+	Silent	SNP	A	A	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr10:15106498A>T	ENST00000378228.3	+	5	653	c.399A>T	c.(397-399)gtA>gtT	p.V133V	OLAH_ENST00000378217.3_Silent_p.V186V	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	133					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CAACTCCTGTACATGTAAGTA	0.383																																						ENST00000378217.3																			0				endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						c.(556-558)gtA>gtT		oleoyl-ACP hydrolase							125.0	109.0	114.0					10																	15106498		2203	4300	6503	SO:0001819	synonymous_variant	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15106498A>T	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.399A>T	10.37:g.15106498A>T						OLAH_ENST00000378228.3_Silent_p.V133V	p.V186V	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN			6	745	+			133					Q5VUB6|Q9NUW1	Silent	SNP	ENST00000378228.3	37	c.558A>T	CCDS31152.1																																																																																				0.383	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		15	32	0	0	0	1	0	15	32				
SLC45A1	50651	broad.mit.edu	37	1	8384648	8384648	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:8384648C>A	ENST00000471889.1	+	2	644	c.259C>A	c.(259-261)Ctg>Atg	p.L87M	SLC45A1_ENST00000289877.8_Missense_Mutation_p.L87M|SLC45A1_ENST00000377479.2_Missense_Mutation_p.L121M			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	87					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCGGGAGCTGCTTTTCAA	0.652																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(259-261)Ctg>Atg		solute carrier family 45, member 1							42.0	43.0	43.0					1																	8384648		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8384648C>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.259C>A	1.37:g.8384648C>A	ENSP00000418096:p.Leu87Met					SLC45A1_ENST00000289877.8_Missense_Mutation_p.L87M|SLC45A1_ENST00000377479.2_Missense_Mutation_p.L121M	p.L87M			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	2	644	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	87					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.259C>A	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567046	0.65651	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.83419	-1.72;-1.72;-1.72	4.33	3.4	0.38934	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	D	0.88695	0.6506	M	0.70275	2.135	0.53005	D	0.999969	D	0.89917	1.0	D	0.97110	1.0	D	0.88064	0.2796	10	0.46703	T	0.11	-15.4	10.9988	0.47593	0.0:0.9078:0.0:0.0922	.	87	Q9Y2W3	S45A1_HUMAN	M	87;121;87	ENSP00000418096:L87M;ENSP00000366699:L121M;ENSP00000289877:L87M	ENSP00000289877:L87M	L	+	1	2	SLC45A1	8307235	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.266000	0.51569	2.128000	0.65567	0.585000	0.79938	CTG		0.652	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			5	35	1	0	5.18039e-06	1	5.45146e-06	5	35				
SLC45A3	85414	broad.mit.edu	37	1	205633661	205633661	+	Silent	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:205633661G>A	ENST00000367145.3	-	2	419	c.124C>T	c.(124-126)Ctg>Ttg	p.L42L	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	42					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCAGCAGCAGAGGCGGCACA	0.587			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																	ENST00000367145.3				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	"""ETV1, ETV5, ELK4, ERG"""		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(124-126)Ctg>Ttg		solute carrier family 45, member 3							167.0	154.0	158.0					1																	205633661		2203	4300	6503	SO:0001819	synonymous_variant	85414				transmembrane transport	integral to membrane		g.chr1:205633661G>A	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.124C>T	1.37:g.205633661G>A							p.L42L	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		2	419	-	Breast(84;0.07)		42					A8K2U9	Silent	SNP	ENST00000367145.3	37	c.124C>T	CCDS1458.1																																																																																				0.587	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		55	135	0	0	0	1	0	55	135				
OBSCN	84033	broad.mit.edu	37	1	228400227	228400227	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:228400227C>T	ENST00000422127.1	+	2	787	c.743C>T	c.(742-744)aCg>aTg	p.T248M	OBSCN_ENST00000284548.11_Missense_Mutation_p.T248M|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000570156.2_Missense_Mutation_p.T248M|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	248	Ig-like 3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGCACCTGCACGGTGACTGAA	0.741																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(742-744)aCg>aTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							21.0	25.0	24.0					1																	228400227		2038	4169	6207	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228400227C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.743C>T	1.37:g.228400227C>T	ENSP00000409493:p.Thr248Met					OBSCN_ENST00000284548.11_Missense_Mutation_p.T248M|OBSCN_ENST00000422127.1_Missense_Mutation_p.T248M|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_Intron	p.T248M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			2	817	+		Prostate(94;0.0405)	248			Ig-like 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.743C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	15.67	2.903151	0.52333	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.68624	-0.34;-0.34	4.26	3.35	0.38373	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.267018	0.28114	N	0.016547	T	0.56514	0.1990	L	0.49350	1.555	0.80722	D	1	D;D	0.56746	0.977;0.972	B;B	0.41946	0.371;0.255	T	0.53387	-0.8446	10	0.35671	T	0.21	.	8.5233	0.33289	0.0:0.7028:0.2039:0.0933	.	248;248	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	248	ENSP00000284548:T248M;ENSP00000409493:T248M	ENSP00000284548:T248M	T	+	2	0	OBSCN	226466850	0.999000	0.42202	0.963000	0.40424	0.921000	0.55340	2.236000	0.43052	0.781000	0.33589	0.556000	0.70494	ACG		0.741	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		17	40	0	0	0	1	0	17	40				
NID2	22795	broad.mit.edu	37	14	52534597	52534597	+	Silent	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:52534597G>A	ENST00000216286.5	-	2	512	c.513C>T	c.(511-513)cgC>cgT	p.R171R	NID2_ENST00000541773.1_Silent_p.R118R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	171	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.R171R(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCAGCGCCCCGCGCTTGACCT	0.632																																						ENST00000216286.5																			1	Substitution - coding silent(1)	p.R171R(1)	lung(1)	NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(511-513)cgC>cgT		nidogen 2 (osteonidogen)							84.0	101.0	95.0					14																	52534597		2149	4235	6384	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52534597G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.513C>T	14.37:g.52534597G>A						NID2_ENST00000541773.1_Silent_p.R118R	p.R171R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			2	512	-	Breast(41;0.0639)|all_epithelial(31;0.123)		171			NIDO.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.513C>T	CCDS9706.1																																																																																				0.632	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			75	197	0	0	0	1	0	75	197				
TOR1AIP1	26092	broad.mit.edu	37	1	179886985	179886985	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:179886985G>A	ENST00000606911.2	+	10	1554	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N	TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.D471N|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.D456N|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.D334N			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	455	Interaction with TOR1A.				positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						TCAAGACAGTGATACTGTCAA	0.458																																						ENST00000435319.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(1363-1365)Gat>Aat		torsin A interacting protein 1							87.0	82.0	84.0					1																	179886985		2203	4300	6503	SO:0001583	missense	26092					integral to membrane|nuclear inner membrane		g.chr1:179886985G>A		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1363G>A	1.37:g.179886985G>A	ENSP00000476687:p.Asp455Asn					TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.D471N	p.D455N	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN			10	1554	+			455					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	c.1363G>A	CCDS1335.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181788	0.78677	.	.	ENSG00000143337	ENST00000271583;ENST00000435319	T;T	0.37752	1.18;1.18	5.96	4.09	0.47781	.	0.149733	0.64402	D	0.000018	T	0.48466	0.1501	M	0.70275	2.135	0.51233	D	0.999918	D	0.54397	0.966	P	0.53689	0.732	T	0.49854	-0.8895	9	.	.	.	-13.3799	11.7095	0.51616	0.1424:0.0:0.8576:0.0	.	455	Q5JTV8	TOIP1_HUMAN	N	471;455	ENSP00000271583:D471N;ENSP00000393292:D455N	.	D	+	1	0	TOR1AIP1	178153608	1.000000	0.71417	0.358000	0.25811	0.980000	0.70556	7.519000	0.81809	1.526000	0.49068	0.655000	0.94253	GAT		0.458	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		29	62	0	0	0	1	0	29	62				
ANKRD42	338699	broad.mit.edu	37	11	82921384	82921384	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:82921384C>T	ENST00000393392.2	+	4	451	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	ANKRD42_ENST00000526731.1_Missense_Mutation_p.R125W|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000533342.1_Missense_Mutation_p.R125W|ANKRD42_ENST00000531895.1_Missense_Mutation_p.R125W|ANKRD42_ENST00000260047.6_Missense_Mutation_p.R125W|ANKRD42_ENST00000528722.1_Missense_Mutation_p.R12W|ANKRD42_ENST00000393389.3_Missense_Mutation_p.R125W	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	97					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CCAGGATGACCGGGGATGCAC	0.393																																						ENST00000393389.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(373-375)Cgg>Tgg		ankyrin repeat domain 42							128.0	128.0	128.0					11																	82921384		2203	4300	6503	SO:0001583	missense	338699							g.chr11:82921384C>T	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.289C>T	11.37:g.82921384C>T	ENSP00000377051:p.Arg97Trp					RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.R125W|ANKRD42_ENST00000393392.2_Missense_Mutation_p.R97W|ANKRD42_ENST00000260047.6_Missense_Mutation_p.R125W|ANKRD42_ENST00000528722.1_Missense_Mutation_p.R12W|ANKRD42_ENST00000533342.1_Missense_Mutation_p.R125W|ANKRD42_ENST00000526731.1_Missense_Mutation_p.R125W	p.R125W			Q8N9B4	ANR42_HUMAN			4	1305	+			97					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.373C>T	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938509	0.73557	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000528722;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;D;T;T;T;T;T	0.82803	-0.15;-1.65;2.36;-0.15;2.36;2.36;2.36	5.89	4.99	0.66335	Ankyrin repeat-containing domain (4);	0.269957	0.32868	N	0.005550	D	0.82737	0.5102	N	0.13140	0.3	0.41882	D	0.990327	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.991;0.972;0.964;0.991;0.999	T	0.82228	-0.0561	9	.	.	.	-7.0866	13.943	0.64066	0.0:0.9263:0.0:0.0737	.	125;125;390;216;97	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	W	444;125;12;125;125;125;97;125	ENSP00000377049:R125W;ENSP00000432375:R12W;ENSP00000260047:R125W;ENSP00000433585:R125W;ENSP00000434666:R125W;ENSP00000377051:R97W;ENSP00000435790:R125W	.	R	+	1	2	ANKRD42	82599032	0.782000	0.28689	0.968000	0.41197	0.793000	0.44817	0.612000	0.24283	1.499000	0.48617	0.655000	0.94253	CGG		0.393	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		24	56	0	0	0	1	0	24	56				
NSD1	64324	broad.mit.edu	37	5	176678812	176678812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:176678812G>T	ENST00000439151.2	+	12	4768	c.4723G>T	c.(4723-4725)Gag>Tag	p.E1575*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1472*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1306*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1306*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1575					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGGATTGACTGAGATGCCAAG	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4723-4725)Gag>Tag		nuclear receptor binding SET domain protein 1							122.0	120.0	121.0					5																	176678812		2203	4300	6503	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176678812G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4723G>T	5.37:g.176678812G>T	ENSP00000395929:p.Glu1575*	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1306*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1306*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1472*	p.E1575*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	12	4768	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1575					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.4723G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	44	10.607519	0.99436	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	4.99	4.12	0.48240	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	13.6605	0.62363	0.0753:0.0:0.9247:0.0	.	.	.	.	X	1306;1575;1306;1472	.	ENSP00000343209:E1306X	E	+	1	0	NSD1	176611418	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	6.069000	0.71209	1.237000	0.43756	0.655000	0.94253	GAG		0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		20	22	1	0	2.32416e-17	1	2.73164e-17	20	22				
GRM1	2911	broad.mit.edu	37	6	146480578	146480578	+	Silent	SNP	T	T	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:146480578T>C	ENST00000282753.1	+	2	1030	c.795T>C	c.(793-795)gcT>gcC	p.A265A	GRM1_ENST00000392299.2_Silent_p.A265A|GRM1_ENST00000507907.1_Silent_p.A265A|GRM1_ENST00000355289.4_Silent_p.A265A|GRM1_ENST00000361719.2_Silent_p.A265A|GRM1_ENST00000492807.2_Silent_p.A265A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	265					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACAGCAACGCTGGGGAGAAGA	0.552																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(793-795)gcT>gcC		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						103.0	92.0	96.0					6																	146480578		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480578T>C	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.795T>C	6.37:g.146480578T>C						GRM1_ENST00000361719.2_Silent_p.A265A|GRM1_ENST00000355289.4_Silent_p.A265A|GRM1_ENST00000282753.1_Silent_p.A265A|GRM1_ENST00000507907.1_Silent_p.A265A|GRM1_ENST00000492807.2_Silent_p.A265A	p.A265A			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1265	+		Ovarian(120;0.0387)	265					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.795T>C	CCDS5209.1																																																																																				0.552	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		22	38	0	0	0	1	0	22	38				
KCNK2	3776	broad.mit.edu	37	1	215345397	215345397	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:215345397T>C	ENST00000444842.2	+	5	844	c.694T>C	c.(694-696)Ttt>Ctt	p.F232L	KCNK2_ENST00000391894.2_Missense_Mutation_p.F217L|KCNK2_ENST00000391895.2_Missense_Mutation_p.F228L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	232					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	ATTTATACTATTTGGCTGTGT	0.393																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(694-696)Ttt>Ctt		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						159.0	135.0	143.0					1																	215345397		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215345397T>C	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.694T>C	1.37:g.215345397T>C	ENSP00000394033:p.Phe232Leu					KCNK2_ENST00000391894.2_Missense_Mutation_p.F217L|KCNK2_ENST00000391895.2_Missense_Mutation_p.F228L	p.F232L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	5	844	+			232					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.694T>C	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.807575	0.50421	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.20200	2.09;2.09;2.09	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	L	0.39898	1.24	0.58432	D	0.999993	B;B;P	0.49783	0.036;0.004;0.928	B;B;P	0.51516	0.028;0.008;0.672	T	0.02087	-1.1216	10	0.06757	T	0.87	.	15.9802	0.80102	0.0:0.0:0.0:1.0	.	217;232;228	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	L	228;217;232	ENSP00000375765:F228L;ENSP00000375764:F217L;ENSP00000394033:F232L	ENSP00000375764:F217L	F	+	1	0	KCNK2	213412020	1.000000	0.71417	0.980000	0.43619	0.891000	0.51852	6.186000	0.72026	2.170000	0.68504	0.456000	0.33151	TTT		0.393	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		28	47	0	0	0	1	0	28	47				
LBH	81606	broad.mit.edu	37	2	30457289	30457289	+	Silent	SNP	G	G	C	rs141295319	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:30457289G>C	ENST00000395323.3	+	2	253	c.45G>C	c.(43-45)tcG>tcC	p.S15S	LBH_ENST00000406087.1_Silent_p.S15S|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000407930.2_5'UTR|LBH_ENST00000401506.1_Silent_p.S21S|LBH_ENST00000404397.1_Silent_p.S15S	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	15					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					ATCTGAGATCGGCCAAGATGA	0.537																																						ENST00000395323.3																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(43-45)tcG>tcC		limb bud and heart development							138.0	117.0	124.0					2																	30457289		2203	4300	6503	SO:0001819	synonymous_variant	81606				multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr2:30457289G>C	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.45G>C	2.37:g.30457289G>C						LBH_ENST00000404397.1_Silent_p.S15S|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000407930.2_5'UTR|LBH_ENST00000406087.1_Silent_p.S15S|LBH_ENST00000401506.1_Silent_p.S21S	p.S15S	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN			2	253	+	Acute lymphoblastic leukemia(172;0.155)		15					B2RBC2|Q9H0Q1	Silent	SNP	ENST00000395323.3	37	c.45G>C	CCDS33173.1																																																																																				0.537	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		8	74	0	0	0	1	0	8	74				
GLI2	2736	broad.mit.edu	37	2	121732644	121732644	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:121732644G>T	ENST00000452319.1	+	9	1387	c.1327G>T	c.(1327-1329)Gac>Tac	p.D443Y	GLI2_ENST00000361492.4_Missense_Mutation_p.D443Y|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.D115Y					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCACTGGGAAGACTGCACCAA	0.597																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1327-1329)Gac>Tac		GLI family zinc finger 2							74.0	67.0	69.0					2																	121732644		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121732644G>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1327G>T	2.37:g.121732644G>T	ENSP00000390436:p.Asp443Tyr					GLI2_ENST00000361492.4_Missense_Mutation_p.D443Y|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.D115Y	p.D443Y			P10070	GLI2_HUMAN			9	1387	+	Renal(3;0.0496)	Prostate(154;0.0623)	443						Missense_Mutation	SNP	ENST00000452319.1	37	c.1327G>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682010	0.68042	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.91577	-2.87;-2.87;-2.87	5.2	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.107650	0.64402	N	0.000006	D	0.92047	0.7480	L	0.52759	1.655	0.43308	D	0.995317	D;B;D;P;P	0.57571	0.98;0.002;0.968;0.523;0.643	P;B;P;B;P	0.56088	0.697;0.002;0.791;0.425;0.64	D	0.92902	0.6340	10	0.87932	D	0	.	15.3342	0.74238	0.0:0.0:0.8594:0.1406	.	443;426;98;98;115	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	Y	443;443;115	ENSP00000390436:D443Y;ENSP00000354586:D443Y;ENSP00000312694:D115Y	ENSP00000312694:D115Y	D	+	1	0	GLI2	121449114	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.601000	0.98297	1.413000	0.46997	0.655000	0.94253	GAC		0.597	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		21	63	1	0	1.40151e-16	1	1.61575e-16	21	63				
MAGEC3	139081	broad.mit.edu	37	X	140984944	140984944	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chrX:140984944T>G	ENST00000298296.1	+	7	1400	c.1400T>G	c.(1399-1401)cTt>cGt	p.L467R	MAGEC3_ENST00000409007.1_Missense_Mutation_p.L169R|MAGEC3_ENST00000544766.1_Missense_Mutation_p.L169R|MAGEC3_ENST00000443323.2_Missense_Mutation_p.L89R|MAGEC3_ENST00000536088.1_Missense_Mutation_p.L169R	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	467	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCAGTTTCTTCTCCTCAAA	0.458																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1399-1401)cTt>cGt		melanoma antigen family C, 3							96.0	89.0	91.0					X																	140984944		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140984944T>G	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1400T>G	X.37:g.140984944T>G	ENSP00000298296:p.Leu467Arg					MAGEC3_ENST00000536088.1_Missense_Mutation_p.L169R|MAGEC3_ENST00000544766.1_Missense_Mutation_p.L169R|MAGEC3_ENST00000443323.2_Missense_Mutation_p.L89R|MAGEC3_ENST00000409007.1_Missense_Mutation_p.L169R	p.L467R	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			7	1400	+	Acute lymphoblastic leukemia(192;6.56e-05)		467			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1400T>G	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	t	11.20	1.568433	0.28003	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23	1.18	1.18	0.20946	.	.	.	.	.	T	0.32675	0.0837	H	0.94582	3.555	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.08229	-1.0732	9	0.87932	D	0	.	4.1545	0.10254	0.0:0.0:0.0:1.0	.	467;169	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	R	467;169;89;169;169	ENSP00000298296:L467R;ENSP00000441107:L169R;ENSP00000438254:L89R;ENSP00000440444:L169R;ENSP00000386566:L169R	ENSP00000298296:L467R	L	+	2	0	MAGEC3	140812610	0.001000	0.12720	0.001000	0.08648	0.115000	0.19883	0.749000	0.26320	0.706000	0.31912	0.150000	0.16122	CTT		0.458	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		19	49	0	0	0	1	0	19	49				
GPR35	2859	broad.mit.edu	37	2	241569681	241569681	+	Silent	SNP	C	C	T	rs369154325		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:241569681C>T	ENST00000319838.5	+	6	1254	c.312C>T	c.(310-312)atC>atT	p.I104I	GPR35_ENST00000438013.2_Silent_p.I135I|GPR35_ENST00000403859.1_Silent_p.I104I|GPR35_ENST00000430267.1_Silent_p.I104I|GPR35_ENST00000407714.1_Silent_p.I104I	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	104					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACATGAGCATCAGCCTGGTCA	0.692																																						ENST00000319838.5																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(310-312)atC>atT		G protein-coupled receptor 35							53.0	43.0	47.0					2																	241569681		2203	4300	6503	SO:0001819	synonymous_variant	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569681C>T		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.312C>T	2.37:g.241569681C>T						GPR35_ENST00000403859.1_Silent_p.I104I|GPR35_ENST00000438013.2_Silent_p.I135I|GPR35_ENST00000430267.1_Silent_p.I104I|GPR35_ENST00000407714.1_Silent_p.I104I	p.I104I	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1254	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	104					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Silent	SNP	ENST00000319838.5	37	c.312C>T	CCDS2541.1																																																																																				0.692	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		21	18	0	0	0	1	0	21	18				
G3BP1	10146	broad.mit.edu	37	5	151179907	151179907	+	Splice_Site	SNP	A	A	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:151179907A>G	ENST00000394123.3	+	10	1229	c.1084A>G	c.(1084-1086)Agt>Ggt	p.S362G	G3BP1_ENST00000356245.3_Splice_Site_p.S362G|G3BP1_ENST00000543466.1_Splice_Site_p.S180G			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	362	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TTTCTTTCAAAGTAGGTTATT	0.383																																						ENST00000394123.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29						c.e10+1		GTPase activating protein (SH3 domain) binding protein 1							67.0	64.0	65.0					5																	151179907		2203	4300	6503	SO:0001630	splice_region_variant	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151179907A>G	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1084+1A>G	5.37:g.151179907A>G						G3BP1_ENST00000543466.1_Splice_Site_p.S180_splice|G3BP1_ENST00000356245.3_Splice_Site_p.S362_splice	p.S362_splice			Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1229	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	362			RRM.		Q5HYE9	Splice_Site	SNP	ENST00000394123.3	37	c.1084_splice	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.570625	0.45798	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.15487	2.42;2.42;2.42	5.01	5.01	0.66863	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.783592	0.13144	N	0.410421	T	0.14527	0.0351	N	0.20574	0.59	0.22888	N	0.998609	B	0.15141	0.012	B	0.21917	0.037	T	0.19289	-1.0310	10	0.46703	T	0.11	-16.2893	15.0227	0.71643	1.0:0.0:0.0:0.0	.	362	Q13283	G3BP1_HUMAN	G	362;180;362;204	ENSP00000377681:S362G;ENSP00000445035:S180G;ENSP00000348578:S362G	ENSP00000274596:S204G	S	+	1	0	G3BP1	151160100	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.270000	0.43355	2.012000	0.59069	0.455000	0.32223	AGT		0.383	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754	Missense_Mutation	13	13	0	0	0	1	0	13	13				
TM6SF1	53346	broad.mit.edu	37	15	83805347	83805347	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr15:83805347C>A	ENST00000322019.9	+	10	1310	c.1036C>A	c.(1036-1038)Cct>Act	p.P346T	TM6SF1_ENST00000379386.4_Missense_Mutation_p.P349T|TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000565774.1_Missense_Mutation_p.P315T			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	346						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGAGTTCTTCCTCAGCTCTT	0.368																																						ENST00000322019.9																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1036-1038)Cct>Act		transmembrane 6 superfamily member 1							134.0	134.0	134.0					15																	83805347		2203	4300	6503	SO:0001583	missense	53346					integral to membrane		g.chr15:83805347C>A	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.1036C>A	15.37:g.83805347C>A	ENSP00000317000:p.Pro346Thr					TM6SF1_ENST00000379386.4_Missense_Mutation_p.P349T|TM6SF1_ENST00000565774.1_Missense_Mutation_p.P315T|TM6SF1_ENST00000379390.6_3'UTR	p.P346T			Q9BZW5	TM6S1_HUMAN			10	1310	+			346					A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	c.1036C>A	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109370	0.77096	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384	T;T	0.27890	1.64;1.64	5.49	5.49	0.81192	.	0.056056	0.64402	D	0.000001	T	0.48114	0.1482	M	0.65975	2.015	0.80722	D	1	D;D	0.60160	0.967;0.987	P;P	0.58620	0.782;0.842	T	0.48293	-0.9048	10	0.72032	D	0.01	-11.1905	12.6762	0.56895	0.0:0.9246:0.0:0.0754	.	315;346	E9PD04;Q9BZW5	.;TM6S1_HUMAN	T	346;349;315	ENSP00000317000:P346T;ENSP00000368696:P349T	ENSP00000317000:P346T	P	+	1	0	TM6SF1	81596351	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.898000	0.63238	2.596000	0.87737	0.591000	0.81541	CCT		0.368	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		27	82	1	0	2.61193e-14	1	2.97178e-14	27	82				
PRRT2	112476	broad.mit.edu	37	16	29825109	29825109	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:29825109G>A	ENST00000358758.7	+	2	1017	c.734G>A	c.(733-735)cGc>cAc	p.R245H	PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000300797.6_Missense_Mutation_p.R245H|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Missense_Mutation_p.R245H|AC009133.14_ENST00000569981.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	245			R -> H. {ECO:0000269|PubMed:22101681}.		neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						AGCCTGAGCCGCCACCCCAGC	0.637																																						ENST00000300797.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(733-735)cGc>cAc		proline-rich transmembrane protein 2							31.0	33.0	33.0					16																	29825109		2197	4300	6497	SO:0001583	missense	112476				response to biotic stimulus	integral to membrane		g.chr16:29825109G>A	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.734G>A	16.37:g.29825109G>A	ENSP00000351608:p.Arg245His					AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567659.1_Missense_Mutation_p.R245H|PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000358758.7_Missense_Mutation_p.R245H	p.R245H			Q7Z6L0	PRRT2_HUMAN			2	908	+			245					A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	37	c.734G>A	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025854	0.75390	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.78816	-0.75;-1.21	3.69	3.69	0.42338	.	0.251217	0.39687	N	0.001281	T	0.79569	0.4468	N	0.24115	0.695	0.50813	D	0.999899	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.81705	-0.0811	10	0.59425	D	0.04	-7.4395	13.3373	0.60524	0.0:0.0:1.0:0.0	.	245;245;245	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	H	245	ENSP00000351608:R245H;ENSP00000300797:R245H	ENSP00000300797:R245H	R	+	2	0	PRRT2	29732610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.762000	0.62250	2.077000	0.62373	0.563000	0.77884	CGC		0.637	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		3	55	0	0	0	1	0	3	55				
MUC17	140453	broad.mit.edu	37	7	100678983	100678983	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:100678983C>G	ENST00000306151.4	+	3	4350	c.4286C>G	c.(4285-4287)aCt>aGt	p.T1429S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1429	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGGGACCACTTCTGCTGAA	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4285-4287)aCt>aGt		mucin 17, cell surface associated							214.0	227.0	223.0					7																	100678983		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678983C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4286C>G	7.37:g.100678983C>G	ENSP00000302716:p.Thr1429Ser						p.T1429S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4350	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1429			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4286C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.722	-0.783310	0.02907	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	1.19	-1.49	0.08718	.	.	.	.	.	T	0.01905	0.0060	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49093	-0.8975	9	0.05959	T	0.93	.	6.7452	0.23458	0.0:0.421:0.579:0.0	.	1429	Q685J3	MUC17_HUMAN	S	1429	ENSP00000302716:T1429S	ENSP00000302716:T1429S	T	+	2	0	MUC17	100465703	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.098000	0.11024	-0.390000	0.07774	-1.525000	0.00928	ACT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		54	681	0	0	0	1	0	54	681				
SELE	6401	broad.mit.edu	37	1	169702093	169702093	+	Silent	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:169702093C>T	ENST00000333360.7	-	3	223	c.84G>A	c.(82-84)acG>acA	p.T28T	SELE_ENST00000367776.1_Silent_p.T28T|SELE_ENST00000367774.1_Silent_p.T28T|SELE_ENST00000367775.1_Silent_p.T28T|SELE_ENST00000367777.1_Silent_p.T28T|SELE_ENST00000367782.4_Silent_p.T28T|SELE_ENST00000367780.4_Silent_p.T28T|SELE_ENST00000367781.4_Silent_p.T28T|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Silent_p.T28T	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	28	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TCATAGCTTCCGTGGAGGTGT	0.418																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(82-84)acG>acA		selectin E							113.0	106.0	109.0					1																	169702093		2203	4300	6503	SO:0001819	synonymous_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169702093C>T	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.84G>A	1.37:g.169702093C>T						SELE_ENST00000367780.4_Silent_p.T28T|SELE_ENST00000367779.4_Silent_p.T28T|SELE_ENST00000367782.4_Silent_p.T28T|SELE_ENST00000367777.1_Silent_p.T28T|SELE_ENST00000367774.1_Silent_p.T28T|SELE_ENST00000367775.1_Silent_p.T28T|SELE_ENST00000367781.4_Silent_p.T28T|SELE_ENST00000367776.1_Silent_p.T28T|C1orf112_ENST00000498289.1_Intron	p.T28T	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			3	223	-	all_hematologic(923;0.208)		28			C-type lectin.		A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	c.84G>A	CCDS1283.1																																																																																				0.418	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		25	58	0	0	0	1	0	25	58				
DRC1	92749	broad.mit.edu	37	2	26667762	26667762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:26667762C>T	ENST00000288710.2	+	10	1416	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	448					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											gcctatttctcAGCAGCCCCA	0.527																																						ENST00000288710.2																			0											c.(1342-1344)Cag>Tag		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							79.0	69.0	72.0					2																	26667762		2203	4300	6503	SO:0001587	stop_gained	92749							g.chr2:26667762C>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1342C>T	2.37:g.26667762C>T	ENSP00000288710:p.Gln448*					DRC1_ENST00000483675.1_3'UTR	p.Q448*	NM_145038.2	NP_659475.2					10	1416	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Nonsense_Mutation	SNP	ENST00000288710.2	37	c.1342C>T	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100197	0.37048	.	.	ENSG00000157856	ENST00000288710	.	.	.	5.17	4.27	0.50696	.	0.301800	0.36740	N	0.002422	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-26.7442	9.2605	0.37610	0.1787:0.6726:0.1487:0.0	.	.	.	.	X	448	.	ENSP00000288710:Q448X	Q	+	1	0	CCDC164	26521266	0.919000	0.31177	0.792000	0.32020	0.108000	0.19459	1.728000	0.38105	1.094000	0.41399	0.467000	0.42956	CAG		0.527	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		13	36	0	0	0	1	0	13	36				
IL1B	3553	broad.mit.edu	37	2	113590982	113590982	+	Silent	SNP	C	C	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:113590982C>G	ENST00000263341.2	-	4	480	c.270G>C	c.(268-270)ctG>ctC	p.L90L	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	90					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	AGAAGGTGCTCAGGTCATTCT	0.537																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(268-270)ctG>ctC		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						117.0	107.0	111.0					2																	113590982		2203	4300	6503	SO:0001819	synonymous_variant	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113590982C>G	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.270G>C	2.37:g.113590982C>G						IL1B_ENST00000491056.1_5'UTR	p.L90L	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN			4	480	-			90					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Silent	SNP	ENST00000263341.2	37	c.270G>C	CCDS2102.1																																																																																				0.537	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		32	89	0	0	0	1	0	32	89				
ZNF292	23036	broad.mit.edu	37	6	87968972	87968972	+	Silent	SNP	A	A	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:87968972A>G	ENST00000369577.3	+	8	5668	c.5625A>G	c.(5623-5625)aaA>aaG	p.K1875K	ZNF292_ENST00000339907.4_Silent_p.K1870K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1875						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)		CGCCTGTTAAATCAACTGCAG	0.358																																						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.(5623-5625)aaA>aaG		zinc finger protein 292							66.0	67.0	67.0					6																	87968972		1947	4159	6106	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968972A>G	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.5625A>G	6.37:g.87968972A>G						ZNF292_ENST00000339907.4_Silent_p.K1870K	p.K1875K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5668	+		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)	1875					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.5625A>G	CCDS47457.1																																																																																				0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		24	41	0	0	0	1	0	24	41				
ABCG4	64137	broad.mit.edu	37	11	119020694	119020694	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:119020694G>C	ENST00000449422.2	+	2	207	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	ABCG4_ENST00000531739.1_Missense_Mutation_p.E7Q|ABCG4_ENST00000307417.3_Missense_Mutation_p.E7Q	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	7					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAAGGCGCTGGAGGCCGTGGG	0.687																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(19-21)Gag>Cag		ATP-binding cassette, sub-family G (WHITE), member 4							33.0	41.0	38.0					11																	119020694		2200	4293	6493	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119020694G>C	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.19G>C	11.37:g.119020694G>C	ENSP00000406874:p.Glu7Gln					ABCG4_ENST00000531739.1_Missense_Mutation_p.E7Q|ABCG4_ENST00000449422.2_Missense_Mutation_p.E7Q	p.E7Q	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	2	383	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	7					A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.19G>C	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153973	0.94645	.	.	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	4.9	4.9	0.64082	.	0.000000	0.50627	D	0.000107	T	0.06005	0.0156	N	0.14661	0.345	0.47153	D	0.999338	P	0.35155	0.487	B	0.29440	0.102	T	0.41752	-0.9491	10	0.54805	T	0.06	-23.0326	16.2534	0.82498	0.0:0.0:1.0:0.0	.	7	Q9H172	ABCG4_HUMAN	Q	7	ENSP00000304111:E7Q;ENSP00000431915:E7Q;ENSP00000406874:E7Q;ENSP00000434318:E7Q	ENSP00000304111:E7Q	E	+	1	0	ABCG4	118525904	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.821000	0.92009	2.269000	0.75478	0.555000	0.69702	GAG		0.687	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		21	44	0	0	0	1	0	21	44				
PTK7	5754	broad.mit.edu	37	6	43113017	43113017	+	Silent	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:43113017G>A	ENST00000230419.4	+	16	2708	c.2487G>A	c.(2485-2487)gtG>gtA	p.V829V	PTK7_ENST00000349241.2_Silent_p.V699V|PTK7_ENST00000352931.2_Silent_p.V773V|PTK7_ENST00000481273.1_Silent_p.V837V|PTK7_ENST00000345201.2_Silent_p.V789V	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	829	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGGTACTTGTGAAGAGCCTGC	0.587																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2485-2487)gtG>gtA		protein tyrosine kinase 7							90.0	86.0	87.0					6																	43113017		2203	4300	6503	SO:0001819	synonymous_variant	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43113017G>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2487G>A	6.37:g.43113017G>A						PTK7_ENST00000345201.2_Silent_p.V789V|PTK7_ENST00000481273.1_Silent_p.V837V|PTK7_ENST00000352931.2_Silent_p.V773V|PTK7_ENST00000349241.2_Silent_p.V699V	p.V829V	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		16	2708	+			829			Interaction with CTNNB1.|Protein kinase; inactive.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.2487G>A	CCDS4884.1																																																																																				0.587	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			38	80	0	0	0	1	0	38	80				
CHST11	50515	broad.mit.edu	37	12	105150837	105150837	+	Silent	SNP	C	C	T	rs141459164		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr12:105150837C>T	ENST00000303694.5	+	3	754	c.315C>T	c.(313-315)aaC>aaT	p.N105N	CHST11_ENST00000549260.1_Silent_p.N100N	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	105					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TGACCCCCAACGACCTGAAGC	0.612																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(313-315)aaC>aaT		carbohydrate (chondroitin 4) sulfotransferase 11		C	,	1,4405	2.1+/-5.4	0,1,2202	60.0	48.0	52.0		300,315	3.7	1.0	12	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CHST11	NM_001173982.1,NM_018413.5	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	100/348,105/353	105150837	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105150837C>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.315C>T	12.37:g.105150837C>T						CHST11_ENST00000549260.1_Silent_p.N100N	p.N105N	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	754	+			105					A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	c.315C>T	CCDS9099.1																																																																																				0.612	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		13	27	0	0	0	1	0	13	27				
LY96	23643	broad.mit.edu	37	8	74922285	74922285	+	Silent	SNP	C	C	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:74922285C>A	ENST00000284818.2	+	3	343	c.252C>A	c.(250-252)acC>acA	p.T84T	LY96_ENST00000518893.1_Silent_p.T54T	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	84					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			CTGTCAACACCATGAATCTTC	0.343																																					GBM(131;1357 1748 34893 50149 52212)	ENST00000284818.2																			0				endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(250-252)acC>acA		lymphocyte antigen 96							92.0	91.0	91.0					8																	74922285		2203	4300	6503	SO:0001819	synonymous_variant	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74922285C>A	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.252C>A	8.37:g.74922285C>A						LY96_ENST00000518893.1_Silent_p.T54T	p.T84T	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		3	343	+	Breast(64;0.0311)		84					B3Y6A5|E5RJJ7	Silent	SNP	ENST00000284818.2	37	c.252C>A	CCDS6216.1																																																																																				0.343	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364		15	41	1	0	8.60227e-14	1	9.61118e-14	15	41				
LRRC37A4P	55073	broad.mit.edu	37	17	43585917	43585917	+	RNA	SNP	C	C	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr17:43585917C>A	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		TGGGGAGACACATGCACAAGA	0.483																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43585917C>A	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43585917C>A						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.483	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		15	43	1	0	2.62699e-14	1	2.97178e-14	15	43				
PTH	5741	broad.mit.edu	37	11	13513987	13513987	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:13513987C>G	ENST00000282091.1	-	3	427	c.313G>C	c.(313-315)Gat>Cat	p.D105H	PTH_ENST00000529816.1_Missense_Mutation_p.D105H	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	105					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|bone resorption (GO:0045453)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular macromolecule biosynthetic process (GO:0034645)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to lead ion (GO:0010288)|response to parathyroid hormone (GO:0071107)|response to vitamin D (GO:0033280)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		ACATTCACATCAGCTTTGTCT	0.428																																						ENST00000282091.1																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(313-315)Gat>Cat		parathyroid hormone							104.0	95.0	98.0					11																	13513987		2200	4294	6494	SO:0001583	missense	5741				bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding	g.chr11:13513987C>G	J00301	CCDS7812.1	11p15.3-p15.1	2013-02-28				ENSG00000152266		"""Endogenous ligands"""	9606	protein-coding gene	gene with protein product	"""parathyrin"", ""parathormone"", ""parathyroid hormone 1"", ""preproparathyroid hormone"", ""prepro-PTH"""	168450				1672845	Standard	NM_000315		Approved	PTH1	uc001mlb.3	P01270		ENST00000282091.1:c.313G>C	11.37:g.13513987C>G	ENSP00000282091:p.Asp105His					PTH_ENST00000529816.1_Missense_Mutation_p.D105H	p.D105H	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)	3	427	-			105					Q4VB48|Q9UD38	Missense_Mutation	SNP	ENST00000282091.1	37	c.313G>C	CCDS7812.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309580	0.60414	.	.	ENSG00000152266	ENST00000282091;ENST00000529816	D;D	0.82526	-1.62;-1.62	5.95	4.05	0.47172	.	0.678357	0.15360	N	0.266438	D	0.86401	0.5924	L	0.60455	1.87	0.36143	D	0.846914	D	0.65815	0.995	D	0.63192	0.912	D	0.85654	0.1284	10	0.45353	T	0.12	-4.3934	7.4587	0.27283	0.3541:0.5687:0.0:0.0772	.	105	P01270	PTHY_HUMAN	H	105	ENSP00000282091:D105H;ENSP00000433208:D105H	ENSP00000282091:D105H	D	-	1	0	PTH	13470563	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.081000	0.30791	0.817000	0.34445	0.650000	0.86243	GAT		0.428	PTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386198.1	NM_000315		18	47	0	0	0	1	0	18	47				
BSDC1	55108	broad.mit.edu	37	1	32841954	32841954	+	Silent	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:32841954C>T	ENST00000455895.2	-	9	1098	c.1065G>A	c.(1063-1065)gaG>gaA	p.E355E	BSDC1_ENST00000341071.7_Silent_p.E372E|BSDC1_ENST00000446293.2_Silent_p.E372E|BSDC1_ENST00000413080.1_Silent_p.E294E|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000449308.1_Silent_p.E355E|BSDC1_ENST00000419121.2_Silent_p.E299E|BSDC1_ENST00000526031.1_Silent_p.E260E	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	355										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCCTCAGAGTCTCTACTCTGG	0.592																																						ENST00000341071.7																			0				breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1114-1116)gaG>gaA		BSD domain containing 1							72.0	80.0	78.0					1																	32841954		2203	4300	6503	SO:0001819	synonymous_variant	55108						protein binding	g.chr1:32841954C>T	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.1065G>A	1.37:g.32841954C>T						BSDC1_ENST00000446293.2_Silent_p.E372E|BSDC1_ENST00000449308.1_Silent_p.E355E|BSDC1_ENST00000419121.2_Silent_p.E299E|BSDC1_ENST00000526031.1_Silent_p.E260E|BSDC1_ENST00000413080.1_Silent_p.E294E|BSDC1_ENST00000455895.2_Silent_p.E355E	p.E372E			Q9NW68	BSDC1_HUMAN			9	1127	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	355					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Silent	SNP	ENST00000455895.2	37	c.1116G>A	CCDS363.2																																																																																				0.592	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		51	170	0	0	0	1	0	51	170				
PPP2R3A	5523	broad.mit.edu	37	3	135741933	135741933	+	Intron	SNP	C	C	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr3:135741933C>G	ENST00000264977.3	+	3	2612				PPP2R3A_ENST00000334546.2_Missense_Mutation_p.L8V|PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha						eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAAACATCTCTACGAAGGGA	0.428																																						ENST00000334546.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(22-24)Cta>Gta		protein phosphatase 2, regulatory subunit B'', alpha							127.0	127.0	127.0					3																	135741933		2203	4300	6503	SO:0001627	intron_variant	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135741933C>G	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1996-3741C>G	3.37:g.135741933C>G						PPP2R3A_ENST00000490467.1_Intron|PPP2R3A_ENST00000264977.3_Intron	p.L8V	NM_181897.2	NP_871626.1	Q06190	P2R3A_HUMAN			1	357	+			0					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.22C>G	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130839	0.56828	.	.	ENSG00000073711	ENST00000334546	T	0.18174	2.23	6.07	4.18	0.49190	.	.	.	.	.	T	0.32346	0.0826	L	0.52573	1.65	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.03249	-1.1056	9	0.66056	D	0.02	.	9.4115	0.38494	0.0:0.8122:0.0:0.1878	.	8	Q06190-2	.	V	8	ENSP00000334748:L8V	ENSP00000334748:L8V	L	+	1	2	PPP2R3A	137224623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.896000	0.39789	1.447000	0.47661	0.655000	0.94253	CTA		0.428	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		28	52	0	0	0	1	0	28	52				
COL22A1	169044	broad.mit.edu	37	8	139609183	139609183	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:139609183G>A	ENST00000303045.6	-	62	4842	c.4396C>T	c.(4396-4398)Cgg>Tgg	p.R1466W	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.R1446W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1466	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R1466W(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGAATAAGCCGACGCAGGGTT	0.522										HNSCC(7;0.00092)																												ENST00000303045.6																			1	Substitution - Missense(1)	p.R1466W(1)	large_intestine(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4396-4398)Cgg>Tgg		collagen, type XXII, alpha 1							155.0	157.0	157.0					8																	139609183		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139609183G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4396C>T	8.37:g.139609183G>A	ENSP00000303153:p.Arg1466Trp	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.R1446W|COL22A1_ENST00000341807.4_5'UTR	p.R1466W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		62	4842	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1466			Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4396C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684634	0.47991	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.89939	-2.59;-2.49	4.93	1.53	0.23141	.	0.000000	0.40728	U	0.001032	D	0.92681	0.7674	M	0.70595	2.14	0.46874	D	0.999233	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	D	0.91184	0.4978	10	0.44086	T	0.13	.	12.7493	0.57300	0.0:0.0:0.437:0.563	.	1446;1466	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	W	1466;1446;1159	ENSP00000303153:R1466W;ENSP00000387655:R1446W	ENSP00000303153:R1466W	R	-	1	2	COL22A1	139678365	0.988000	0.35896	0.820000	0.32676	0.976000	0.68499	0.848000	0.27710	0.429000	0.26202	0.467000	0.42956	CGG		0.522	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		66	202	0	0	0	1	0	66	202				
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G	rs201502468		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTTGTACTAGAAACAGACC	0.552																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195711423A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711423A>G								NR_003264.2						0	524	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.552	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	58	0	0	0	1	0	5	58				
INVS	27130	broad.mit.edu	37	9	103054880	103054880	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr9:103054880G>A	ENST00000262457.2	+	14	2526	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N	INVS_ENST00000262456.2_Intron|INVS_ENST00000541287.1_Missense_Mutation_p.D685N	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	781					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CAGGCGGCATGACACAGAACC	0.622																																						ENST00000262457.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2341-2343)Gac>Aac		inversin							52.0	53.0	53.0					9																	103054880		2203	4300	6503	SO:0001583	missense	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103054880G>A	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2341G>A	9.37:g.103054880G>A	ENSP00000262457:p.Asp781Asn					INVS_ENST00000262456.2_Intron|INVS_ENST00000541287.1_Missense_Mutation_p.D685N	p.D781N	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN			14	2526	+		Acute lymphoblastic leukemia(62;0.056)	781					A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	c.2341G>A	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088506	0.55968	.	.	ENSG00000119509	ENST00000262457;ENST00000541287	T;T	0.42900	0.97;0.96	5.55	4.65	0.58169	.	0.472097	0.23461	N	0.047926	T	0.29652	0.0740	L	0.27053	0.805	0.09310	N	1	P;B	0.34724	0.465;0.22	B;B	0.31101	0.124;0.036	T	0.19289	-1.0310	10	0.54805	T	0.06	.	12.4462	0.55651	0.0:0.1687:0.8313:0.0	.	685;781	F5GZH2;Q9Y283	.;INVS_HUMAN	N	781;685	ENSP00000262457:D781N;ENSP00000444454:D685N	ENSP00000262457:D781N	D	+	1	0	INVS	102094701	0.000000	0.05858	0.006000	0.13384	0.335000	0.28730	0.271000	0.18626	1.328000	0.45358	0.650000	0.86243	GAC		0.622	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		27	45	0	0	0	1	0	27	45				
DUS4L	11062	broad.mit.edu	37	7	107207564	107207564	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:107207564G>T	ENST00000265720.3	+	3	411	c.49G>T	c.(49-51)Gat>Tat	p.D17Y	COG5_ENST00000393603.2_5'Flank|DUS4L_ENST00000498786.1_3'UTR|COG5_ENST00000297135.3_5'Flank|DUS4L_ENST00000402620.1_5'UTR	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	17							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						AAGAAAAAAAGATCCCATAGA	0.333																																						ENST00000265720.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(49-51)Gat>Tat		dihydrouridine synthase 4-like (S. cerevisiae)							86.0	85.0	85.0					7																	107207564		2203	4300	6503	SO:0001583	missense	11062				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr7:107207564G>T	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"""protein similar to E.coli yhdg and R. capsulatus nifR3"""						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.49G>T	7.37:g.107207564G>T	ENSP00000265720:p.Asp17Tyr					DUS4L_ENST00000402620.1_5'UTR|DUS4L_ENST00000498786.1_3'UTR	p.D17Y	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN			3	411	+			17					B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	37	c.49G>T	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888872	0.72524	.	.	ENSG00000105865	ENST00000265720	T	0.32988	1.43	5.72	4.84	0.62591	.	0.210963	0.48767	D	0.000169	T	0.29061	0.0722	L	0.55103	1.725	0.80722	D	1	P	0.39282	0.666	B	0.38562	0.276	T	0.05370	-1.0889	10	0.54805	T	0.06	.	9.5471	0.39288	0.1544:0.0:0.8456:0.0	.	17	O95620	DUS4L_HUMAN	Y	17	ENSP00000265720:D17Y	ENSP00000265720:D17Y	D	+	1	0	DUS4L	106994800	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.724000	0.54962	2.683000	0.91414	0.655000	0.94253	GAT		0.333	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581		39	32	1	0	4.16155e-14	1	4.67851e-14	39	32				
SMPD3	55512	broad.mit.edu	37	16	68405206	68405206	+	Silent	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:68405206G>A	ENST00000219334.5	-	3	1482	c.879C>T	c.(877-879)ggC>ggT	p.G293G	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000563226.1_Silent_p.G293G|SMPD3_ENST00000568373.1_Silent_p.G293G	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	293					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCGAGGGGCTGCCCAGGCTCC	0.697																																						ENST00000219334.5																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(877-879)ggC>ggT		sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	Phosphatidylserine(DB00144)						20.0	24.0	23.0					16																	68405206		2195	4294	6489	SO:0001819	synonymous_variant	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68405206G>A	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.879C>T	16.37:g.68405206G>A						SMPD3_ENST00000563226.1_Silent_p.G293G|SMPD3_ENST00000568373.1_Silent_p.G293G	p.G293G	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	3	1482	-		Ovarian(137;0.0563)	293					B7ZL82|Q2M1S8	Silent	SNP	ENST00000219334.5	37	c.879C>T	CCDS10867.1																																																																																				0.697	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		27	32	0	0	0	1	0	27	32				
ZNF136	7695	broad.mit.edu	37	19	12297828	12297828	+	Missense_Mutation	SNP	G	G	A	rs370384772		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr19:12297828G>A	ENST00000343979.4	+	4	775	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	ZNF136_ENST00000398616.2_Missense_Mutation_p.R146Q	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	212					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AGTAGATTTCGAACACATGAA	0.383																																						ENST00000343979.4																			0				NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(634-636)cGa>cAa		zinc finger protein 136		G	GLN/ARG	0,4406		0,0,2203	63.0	61.0	62.0		635	0.1	0.0	19		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF136	NM_003437.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	212/541	12297828	1,13005	2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12297828G>A	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.635G>A	19.37:g.12297828G>A	ENSP00000344162:p.Arg212Gln					ZNF136_ENST00000398616.2_Missense_Mutation_p.R146Q	p.R212Q	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN			4	775	+			212						Missense_Mutation	SNP	ENST00000343979.4	37	c.635G>A	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910206	0.33721	0.0	1.16E-4	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.04275	3.66;3.66	1.4	0.129	0.14739	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05227	0.0139	N	0.16602	0.42	0.09310	N	1	D	0.62365	0.991	P	0.54629	0.757	T	0.42378	-0.9455	8	.	.	.	.	4.9088	0.13811	0.4514:0.0:0.5486:0.0	.	212	P52737	ZN136_HUMAN	Q	212;146	ENSP00000344162:R212Q;ENSP00000381617:R146Q	.	R	+	2	0	ZNF136	12158828	0.003000	0.15002	0.005000	0.12908	0.995000	0.86356	-0.017000	0.12590	0.047000	0.15862	0.655000	0.94253	CGA		0.383	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		17	31	0	0	0	1	0	17	31				
SH3RF2	153769	broad.mit.edu	37	5	145442148	145442148	+	Nonsense_Mutation	SNP	C	C	T	rs376569546		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:145442148C>T	ENST00000511217.1	+	9	2126	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Nonsense_Mutation_p.R692*			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	692					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTGCCCACCGAAGTGGCTG	0.627																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(2074-2076)Cga>Tga		SH3 domain containing ring finger 2		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	54.0	55.0		2074	4.6	1.0	5		55	0,8600		0,0,4300	no	stop-gained	SH3RF2	NM_152550.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		692/730	145442148	1,13005	2203	4300	6503	SO:0001587	stop_gained	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145442148C>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.2074C>T	5.37:g.145442148C>T	ENSP00000424497:p.Arg692*					SH3RF2_ENST00000359120.4_Nonsense_Mutation_p.R692*|SH3RF2_ENST00000511705.1_3'UTR	p.R692*			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	2126	+			692					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Nonsense_Mutation	SNP	ENST00000511217.1	37	c.2074C>T	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	C	38	7.213312	0.98139	2.27E-4	0.0	ENSG00000156463	ENST00000359120;ENST00000511217;ENST00000513503	.	.	.	5.5	4.62	0.57501	.	0.121502	0.35772	N	0.002995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8708	12.671	0.56866	0.1762:0.8238:0.0:0.0	.	.	.	.	X	692;692;91	.	ENSP00000352028:R692X	R	+	1	2	SH3RF2	145422341	0.999000	0.42202	1.000000	0.80357	0.736000	0.42039	0.856000	0.27818	1.280000	0.44463	0.313000	0.20887	CGA		0.627	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		22	30	0	0	0	1	0	22	30				
CLN3	1201	broad.mit.edu	37	16	28500627	28500627	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:28500627G>A	ENST00000569430.1	-	5	1025	c.206C>T	c.(205-207)tCg>tTg	p.S69L	CLN3_ENST00000565316.1_Missense_Mutation_p.S69L|CLN3_ENST00000357076.5_Missense_Mutation_p.S69L|CLN3_ENST00000359984.7_Missense_Mutation_p.S69L|CLN3_ENST00000354630.5_Missense_Mutation_p.S69L|CLN3_ENST00000568224.1_Missense_Mutation_p.S15L|CLN3_ENST00000357857.9_Missense_Mutation_p.S15L|CLN3_ENST00000357806.7_Missense_Mutation_p.S69L|CLN3_ENST00000567963.1_Missense_Mutation_p.S69L|CLN3_ENST00000395653.4_5'UTR|CLN3_ENST00000535392.1_Missense_Mutation_p.S15L|CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000355477.5_Missense_Mutation_p.S69L|CLN3_ENST00000360019.2_Missense_Mutation_p.S69L|CLN3_ENST00000333496.9_Missense_Mutation_p.S69L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	69					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CTGGTTTCCCGATGTCCTCTT	0.547																																						ENST00000569430.1																			0				breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						c.(205-207)tCg>tTg		ceroid-lipofuscinosis, neuronal 3							197.0	129.0	152.0					16																	28500627		2197	4300	6497	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28500627G>A	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.206C>T	16.37:g.28500627G>A	ENSP00000454229:p.Ser69Leu					CLN3_ENST00000357857.9_Missense_Mutation_p.S15L|CLN3_ENST00000565316.1_Missense_Mutation_p.S69L|CLN3_ENST00000354630.5_Missense_Mutation_p.S69L|CLN3_ENST00000357076.5_Missense_Mutation_p.S69L|CLN3_ENST00000535392.1_Missense_Mutation_p.S15L|CLN3_ENST00000395653.4_5'UTR|CLN3_ENST00000360019.2_Missense_Mutation_p.S69L|CLN3_ENST00000359984.7_Missense_Mutation_p.S69L|CLN3_ENST00000357806.7_Missense_Mutation_p.S69L|CLN3_ENST00000568224.1_Missense_Mutation_p.S15L|CLN3_ENST00000333496.9_Missense_Mutation_p.S69L|CLN3_ENST00000355477.5_Missense_Mutation_p.S69L|CLN3_ENST00000567963.1_Missense_Mutation_p.S69L	p.S69L			Q13286	CLN3_HUMAN			5	1025	-			69					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.206C>T	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322539	0.23994	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000333496;ENST00000357806;ENST00000357076	T;D;D;D;D;D;T;D;D	0.97138	-0.26;-4.26;-4.26;-4.26;-4.26;-4.26;-0.26;-4.26;-4.26	5.48	5.48	0.80851	Major facilitator superfamily domain, general substrate transporter (1);	0.586609	0.18513	N	0.139009	D	0.93756	0.8004	L	0.29908	0.895	0.09310	N	1	P;P;P;B;B;P;P;P;B	0.46656	0.882;0.733;0.854;0.251;0.175;0.774;0.733;0.579;0.106	B;B;B;B;B;B;B;B;B	0.41088	0.326;0.216;0.347;0.049;0.027;0.343;0.232;0.241;0.025	D	0.89354	0.3663	10	0.54805	T	0.06	-1.8949	12.2057	0.54350	0.0:0.0:0.8297:0.1703	.	69;69;69;120;69;15;69;69;69	B4DXL3;Q13286-3;Q13286-4;B4DIA8;O95090;O95086;Q13286-2;Q13286;O95089	.;.;.;.;.;.;.;CLN3_HUMAN;.	L	15;69;69;69;69;15;69;69;69	ENSP00000443221:S15L;ENSP00000353073:S69L;ENSP00000353116:S69L;ENSP00000346650:S69L;ENSP00000347660:S69L;ENSP00000350523:S15L;ENSP00000329171:S69L;ENSP00000350457:S69L;ENSP00000349586:S69L	ENSP00000329171:S69L	S	-	2	0	CLN3	28408128	0.849000	0.29639	0.045000	0.18777	0.063000	0.16089	5.406000	0.66357	2.736000	0.93811	0.651000	0.88453	TCG		0.547	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			10	19	0	0	0	1	0	10	19				
FUK	197258	broad.mit.edu	37	16	70507028	70507028	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:70507028G>C	ENST00000288078.6	+	15	1781	c.1549G>C	c.(1549-1551)Gag>Cag	p.E517Q	FUK_ENST00000571514.1_Missense_Mutation_p.E10Q|FUK_ENST00000378912.2_Missense_Mutation_p.E549Q	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	517						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGATGGGGGCGAGGCCCTGCG	0.716																																						ENST00000288078.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(1549-1551)Gag>Cag		fucokinase																																				SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70507028G>C		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.1549G>C	16.37:g.70507028G>C	ENSP00000288078:p.Glu517Gln					FUK_ENST00000378912.2_Missense_Mutation_p.E549Q|FUK_ENST00000571514.1_Missense_Mutation_p.E10Q	p.E517Q	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN			15	1781	+		Ovarian(137;0.0694)	517					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.1549G>C	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477367	0.26511	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.08102	3.15;3.13	5.31	-0.343	0.12632	.	0.818268	0.11675	N	0.540476	T	0.06781	0.0173	L	0.43152	1.355	0.09310	N	0.999991	B;B;B	0.24768	0.006;0.003;0.111	B;B;B	0.23150	0.014;0.002;0.044	T	0.44513	-0.9323	10	0.15952	T	0.53	-2.1553	8.0208	0.30408	0.2214:0.1181:0.6604:0.0	.	549;423;517	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	Q	517;549	ENSP00000288078:E517Q;ENSP00000368192:E549Q	ENSP00000288078:E517Q	E	+	1	0	FUK	69064529	0.002000	0.14202	0.002000	0.10522	0.779000	0.44077	0.520000	0.22878	-0.193000	0.10415	0.655000	0.94253	GAG		0.716	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		3	6	0	0	0	1	0	3	6				
TMEM87B	84910	broad.mit.edu	37	2	112863615	112863615	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:112863615C>G	ENST00000283206.4	+	16	1856	c.1487C>G	c.(1486-1488)tCc>tGc	p.S496C		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	496						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						AAATCAGTTTCCAATGGAACA	0.313																																						ENST00000283206.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						c.(1486-1488)tCc>tGc		transmembrane protein 87B							169.0	178.0	175.0					2																	112863615		2203	4300	6503	SO:0001583	missense	84910					integral to membrane		g.chr2:112863615C>G	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1487C>G	2.37:g.112863615C>G	ENSP00000283206:p.Ser496Cys						p.S496C	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN			16	1856	+			496					A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	37	c.1487C>G	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757005	0.49362	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.51	5.51	0.81932	.	0.225950	0.45606	D	0.000359	T	0.40247	0.1109	L	0.28115	0.83	0.33997	D	0.649867	B	0.25719	0.132	B	0.21546	0.035	T	0.53143	-0.8480	9	0.52906	T	0.07	-14.1356	12.6162	0.56578	0.0:0.8332:0.1668:0.0	.	496	Q96K49	TM87B_HUMAN	C	496	.	ENSP00000283206:S496C	S	+	2	0	TMEM87B	112580086	0.999000	0.42202	0.994000	0.49952	0.993000	0.82548	3.921000	0.56454	2.577000	0.86979	0.655000	0.94253	TCC		0.313	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824		80	150	0	0	0	1	0	80	150				
CASR	846	broad.mit.edu	37	3	122003178	122003178	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr3:122003178A>G	ENST00000490131.1	+	7	2749	c.2377A>G	c.(2377-2379)Aag>Gag	p.K793E	CASR_ENST00000296154.5_Missense_Mutation_p.K793E|CASR_ENST00000498619.1_Missense_Mutation_p.K803E|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	793					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTTGCCTTCAAGTCCCGGAA	0.542																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2407-2409)Aag>Gag		calcium-sensing receptor	Cinacalcet(DB01012)						47.0	46.0	46.0					3																	122003178		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003178A>G	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2377A>G	3.37:g.122003178A>G	ENSP00000418685:p.Lys793Glu					CASR_ENST00000490131.1_Missense_Mutation_p.K793E|CASR_ENST00000296154.5_Missense_Mutation_p.K793E	p.K803E	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2845	+			793					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2407A>G	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.613417	0.66672	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.88741	-2.42;-2.42;-2.42	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.042198	0.85682	D	0.000000	D	0.94545	0.8243	M	0.81112	2.525	0.51233	D	0.999912	D;D	0.76494	0.999;0.994	D;D	0.83275	0.996;0.926	D	0.94974	0.8119	10	0.72032	D	0.01	.	15.7575	0.78046	1.0:0.0:0.0:0.0	.	803;793	E7ENE0;P41180	.;CASR_HUMAN	E	793;803;793	ENSP00000418685:K793E;ENSP00000420194:K803E;ENSP00000296154:K793E	ENSP00000296154:K793E	K	+	1	0	CASR	123485868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.006000	0.70724	2.317000	0.78254	0.459000	0.35465	AAG		0.542	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		17	30	0	0	0	1	0	17	30				
ZNF507	22847	broad.mit.edu	37	19	32844500	32844500	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr19:32844500A>G	ENST00000311921.4	+	2	956	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	ZNF507_ENST00000544431.1_Missense_Mutation_p.Y255C|ZNF507_ENST00000355898.5_Missense_Mutation_p.Y255C	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTTTGTAGTTATACTTGTGGC	0.433																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(763-765)tAt>tGt		zinc finger protein 507							164.0	150.0	155.0					19																	32844500		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844500A>G	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.764A>G	19.37:g.32844500A>G	ENSP00000312277:p.Tyr255Cys					ZNF507_ENST00000544431.1_Missense_Mutation_p.Y255C|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.Y255C	p.Y255C	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	956	+	Esophageal squamous(110;0.162)		255					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.764A>G	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.505331	0.64410	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.19394	2.39;2.39;2.15	5.9	5.9	0.94986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	M	0.65498	2.005	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.42464	-0.9450	10	0.66056	D	0.02	.	16.3352	0.83056	1.0:0.0:0.0:0.0	.	255;255	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	C	255	ENSP00000348162:Y255C;ENSP00000312277:Y255C;ENSP00000441549:Y255C	ENSP00000312277:Y255C	Y	+	2	0	ZNF507	37536340	1.000000	0.71417	0.935000	0.37517	0.977000	0.68977	8.957000	0.93082	2.248000	0.74166	0.528000	0.53228	TAT		0.433	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		29	83	0	0	0	1	0	29	83				
NACA2	342538	broad.mit.edu	37	17	59668091	59668091	+	Missense_Mutation	SNP	C	C	T	rs148387940	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr17:59668091C>T	ENST00000521764.1	-	1	472	c.451G>A	c.(451-453)Gga>Aga	p.G151R		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	151					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.G151*(1)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TGAATGTTTCCGACAGCTTCA	0.438													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20748	0.0		0.0	False		,,,				2504	0.0					ENST00000521764.1																			1	Substitution - Nonsense(1)	p.G151*(1)	lung(1)	large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(451-453)Gga>Aga		nascent polypeptide-associated complex alpha subunit 2		C	ARG/GLY	13,4393	20.2+/-43.8	0,13,2190	227.0	211.0	216.0		451	-0.5	1.0	17	dbSNP_134	216	0,8600		0,0,4300	yes	missense	NACA2	NM_199290.3	125	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	benign	151/216	59668091	13,12993	2203	4300	6503	SO:0001583	missense	342538				protein transport	cytoplasm|nucleus		g.chr17:59668091C>T	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.451G>A	17.37:g.59668091C>T	ENSP00000427802:p.Gly151Arg						p.G151R	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	472	-	all_epithelial(1;3.12e-14)		151					Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	c.451G>A	CCDS11630.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.66	2.303203	0.40795	0.002951	0.0	ENSG00000253506	ENST00000521764	T	0.46063	0.88	0.753	-0.497	0.12023	.	0.203507	0.33235	U	0.005134	T	0.23451	0.0567	L	0.34521	1.04	0.25561	N	0.986994	B	0.21452	0.056	B	0.12156	0.007	T	0.10660	-1.0620	9	.	.	.	.	4.7897	0.13243	0.6733:0.3267:0.0:0.0	.	151	Q9H009	NACA2_HUMAN	R	151	ENSP00000427802:G151R	.	G	-	1	0	NACA2	57022873	0.998000	0.40836	0.992000	0.48379	0.932000	0.56968	2.585000	0.46111	-0.202000	0.10268	-0.688000	0.03733	GGA		0.438	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		68	148	0	0	0	1	0	68	148				
CD40	958	broad.mit.edu	37	20	44751298	44751298	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr20:44751298C>G	ENST00000372285.3	+	4	378	c.306C>G	c.(304-306)atC>atG	p.I102M	CD40_ENST00000372276.3_Missense_Mutation_p.I102M|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	102					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				CAGACACCATCTGCACCTGTG	0.592									Immune Deficiency with Hyper-IgM																													ENST00000372285.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(304-306)atC>atG		CD40 molecule, TNF receptor superfamily member 5	Simvastatin(DB00641)						122.0	107.0	112.0					20																	44751298		2203	4300	6503	SO:0001583	missense	958	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44751298C>G	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.306C>G	20.37:g.44751298C>G	ENSP00000361359:p.Ile102Met					CD40_ENST00000372276.3_Missense_Mutation_p.I102M|CD40_ENST00000489304.1_3'UTR	p.I102M	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN			4	378	+		Myeloproliferative disorder(115;0.0122)	102					E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	ENST00000372285.3	37	c.306C>G	CCDS13393.1	.	.	.	.	.	.	.	.	.	.	c	11.53	1.667401	0.29604	.	.	ENSG00000101017	ENST00000372285;ENST00000372276	D;D	0.94330	-3.4;-3.4	4.05	0.616	0.17613	TNFR/CD27/30/40/95 cysteine-rich region (2);	1.661170	0.02874	N	0.132027	D	0.92974	0.7764	M	0.70595	2.14	0.09310	N	0.999999	B;P;B;P	0.46395	0.206;0.877;0.398;0.591	B;P;B;B	0.45195	0.082;0.473;0.096;0.183	T	0.80894	-0.1178	10	0.56958	D	0.05	-0.4874	5.4751	0.16692	0.0:0.4604:0.0:0.5396	.	85;102;102;102	Q09LL4;P25942-2;P25942;Q6P2H9	.;.;TNR5_HUMAN;.	M	102	ENSP00000361359:I102M;ENSP00000361350:I102M	ENSP00000361350:I102M	I	+	3	3	CD40	44184705	0.002000	0.14202	0.120000	0.21714	0.410000	0.31052	-0.541000	0.06099	0.023000	0.15187	0.574000	0.79327	ATC		0.592	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250		34	79	0	0	0	1	0	34	79				
PKD1L2	114780	broad.mit.edu	37	16	81232629	81232629	+	RNA	SNP	A	A	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr16:81232629A>C	ENST00000525539.1	-	0	1180				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGACTCGGCCAGGGTTATGTC	0.498																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1180-1182)cTg>cGg		polycystic kidney disease 1-like 2							77.0	76.0	76.0					16																	81232629		1929	4137	6066			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81232629A>C	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81232629A>C						PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA	p.L394R			Q7Z442	PK1L2_HUMAN			7	1180	-			394					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.1181T>G		.	.	.	.	.	.	.	.	.	.	A	14.93	2.683517	0.47991	.	.	ENSG00000166473	ENST00000337114	T	0.02682	4.2	5.24	5.24	0.73138	.	0.197285	0.33895	N	0.004453	T	0.14227	0.0344	.	.	.	0.29152	N	0.878305	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.00670	-1.1617	9	0.87932	D	0	-11.949	15.1507	0.72696	1.0:0.0:0.0:0.0	.	394;394	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	R	394	ENSP00000337397:L394R	ENSP00000337397:L394R	L	-	2	0	PKD1L2	79790130	1.000000	0.71417	0.987000	0.45799	0.034000	0.12701	6.548000	0.73896	1.991000	0.58162	0.443000	0.29094	CTG		0.498	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			26	67	0	0	0	1	0	26	67				
LYSMD3	116068	broad.mit.edu	37	5	89814775	89814775	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:89814775G>T	ENST00000315948.6	-	3	926	c.782C>A	c.(781-783)tCa>tAa	p.S261*	LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Missense_Mutation_p.Q103K	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	261						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TGTGATTTTTGAATGTAAATG	0.343																																						ENST00000315948.6																			0				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(781-783)tCa>tAa		LysM, putative peptidoglycan-binding, domain containing 3							132.0	122.0	125.0					5																	89814775		1890	4123	6013	SO:0001587	stop_gained	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89814775G>T	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.782C>A	5.37:g.89814775G>T	ENSP00000314518:p.Ser261*					LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Missense_Mutation_p.Q103K	p.S261*	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	926	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	261					Q5H9U0|Q6PEK0|Q9NTE9	Nonsense_Mutation	SNP	ENST00000315948.6	37	c.782C>A	CCDS43338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.668762|4.668762	0.88348|0.88348	.|.	.|.	ENSG00000176018|ENSG00000176018;ENSG00000259141	ENST00000500869|ENST00000315948;ENST00000554351	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.382752	.|0.26979	.|N	.|0.021525	T|.	0.36799|.	0.0980|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.23249|.	0.082|.	B|.	0.24269|.	0.052|.	T|.	0.18935|.	-1.0321|.	7|.	0.48119|0.02654	T|T	0.1|1	-2.523|-2.523	13.562|13.562	0.61795|0.61795	0.0737:0.0:0.9263:0.0|0.0737:0.0:0.9263:0.0	.|.	103|.	Q7Z3D4-3|.	.|.	K|X	103|261	.|.	ENSP00000427020:Q103K|ENSP00000314518:S261X	Q|S	-|-	1|2	0|0	LYSMD3|AC027323.1;LYSMD3	89850531|89850531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.752000|0.752000	0.42762|0.42762	3.895000|3.895000	0.56258|0.56258	2.751000|2.751000	0.94390|0.94390	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.343	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		27	36	1	0	2.41591e-17	1	2.80308e-17	27	36				
COL22A1	169044	broad.mit.edu	37	8	139845379	139845379	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:139845379C>A	ENST00000303045.6	-	5	1194	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	COL22A1_ENST00000435777.1_Missense_Mutation_p.D250Y	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	250	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGAACAAATCCATCAGGTCA	0.463										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(748-750)Gat>Tat		collagen, type XXII, alpha 1							105.0	89.0	94.0					8																	139845379		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139845379C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.748G>T	8.37:g.139845379C>A	ENSP00000303153:p.Asp250Tyr	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.D250Y	p.D250Y	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		5	1194	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		250			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.748G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922836	0.73213	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.22134	1.97;1.97	5.05	4.17	0.49024	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.120716	0.36482	N	0.002565	T	0.33933	0.0880	L	0.50333	1.59	0.49213	D	0.999766	D	0.67145	0.996	P	0.59703	0.862	T	0.03121	-1.1070	9	.	.	.	.	12.5728	0.56347	0.0:0.9181:0.0:0.0819	.	250	Q8NFW1	COMA1_HUMAN	Y	250	ENSP00000303153:D250Y;ENSP00000387655:D250Y	.	D	-	1	0	COL22A1	139914561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.987000	0.56944	1.271000	0.44313	0.650000	0.86243	GAT		0.463	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		21	57	1	0	2.37509e-13	1	2.63737e-13	21	57				
OSBPL9	114883	broad.mit.edu	37	1	52211292	52211292	+	Missense_Mutation	SNP	G	G	C	rs371808604		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:52211292G>C	ENST00000428468.1	+	5	405	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q	OSBPL9_ENST00000473207.2_3'UTR|OSBPL9_ENST00000447887.1_Missense_Mutation_p.E158Q|OSBPL9_ENST00000337809.4_Missense_Mutation_p.E153Q|OSBPL9_ENST00000486942.1_Intron|OSBPL9_ENST00000371714.1_Missense_Mutation_p.E135Q|OSBPL9_ENST00000371710.3_Missense_Mutation_p.E153Q|OSBPL9_ENST00000530544.1_Missense_Mutation_p.E67Q|OSBPL9_ENST00000531828.1_5'UTR|OSBPL9_ENST00000435686.2_5'UTR|OSBPL9_ENST00000453295.1_Missense_Mutation_p.E118Q|OSBPL9_ENST00000462759.1_5'UTR|OSBPL9_ENST00000361556.5_Missense_Mutation_p.E38Q			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	135					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AATCTTGATTGAACAATTAAA	0.289																																						ENST00000371710.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(457-459)Gaa>Caa		oxysterol binding protein-like 9		G	GLN/GLU,,,GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU	0,4402		0,0,2201	75.0	69.0	71.0		403,,,352,112,403,472	5.0	1.0	1		71	1,8597	1.2+/-3.3	0,1,4298	no	missense,utr-5,intron,missense,missense,missense,missense	OSBPL9	NM_024586.5,NM_148904.3,NM_148905.3,NM_148906.2,NM_148907.2,NM_148908.3,NM_148909.3	29,,,29,29,29,29	0,1,6499	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging,,,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	135/737,,,118/720,38/627,135/724,158/747	52211292	1,12999	2201	4299	6500	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52211292G>C	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.403G>C	1.37:g.52211292G>C	ENSP00000407168:p.Glu135Gln					OSBPL9_ENST00000361556.5_Missense_Mutation_p.E38Q|OSBPL9_ENST00000531828.1_5'UTR|OSBPL9_ENST00000486942.1_Intron|OSBPL9_ENST00000473207.2_3'UTR|OSBPL9_ENST00000453295.1_Missense_Mutation_p.E118Q|OSBPL9_ENST00000447887.1_Missense_Mutation_p.E158Q|OSBPL9_ENST00000435686.2_5'UTR|OSBPL9_ENST00000428468.1_Missense_Mutation_p.E135Q|OSBPL9_ENST00000462759.1_5'UTR|OSBPL9_ENST00000337809.4_Missense_Mutation_p.E153Q|OSBPL9_ENST00000530544.1_Missense_Mutation_p.E67Q|OSBPL9_ENST00000371714.1_Missense_Mutation_p.E135Q	p.E153Q	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN			5	639	+			135					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.457G>C	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909805	0.52439	0.0	1.16E-4	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000361556	T;T;T;T;T	0.15372	2.63;2.85;2.86;2.43;2.62	5.04	5.04	0.67666	.	0.091374	0.64402	D	0.000001	T	0.13884	0.0336	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B	0.30361	0.058;0.277;0.258;0.072;0.012	B;B;B;B;B	0.32289	0.042;0.143;0.085;0.057;0.01	T	0.10154	-1.0642	10	0.34782	T	0.22	-16.4383	17.318	0.87229	0.0:0.0:1.0:0.0	.	118;38;164;135;153	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	Q	135;153;153;158;135;118;67;38	ENSP00000360779:E135Q;ENSP00000360775:E153Q;ENSP00000337265:E153Q;ENSP00000412733:E158Q;ENSP00000407168:E135Q	ENSP00000337265:E153Q	E	+	1	0	OSBPL9	51983880	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.374000	0.90133	2.619000	0.88677	0.650000	0.86243	GAA		0.289	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			4	13	0	0	0	1	0	4	13				
CCDC102B	79839	broad.mit.edu	37	18	66678188	66678188	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr18:66678188A>T	ENST00000360242.5	+	7	1398	c.1281A>T	c.(1279-1281)caA>caT	p.Q427H	CCDC102B_ENST00000319445.6_Missense_Mutation_p.Q427H|CCDC102B_ENST00000584156.1_Missense_Mutation_p.Q427H	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	427										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGAACCTTCAACATGCCTACT	0.328																																						ENST00000360242.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36						c.(1279-1281)caA>caT		coiled-coil domain containing 102B							65.0	62.0	63.0					18																	66678188		2203	4300	6503	SO:0001583	missense	79839							g.chr18:66678188A>T	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1281A>T	18.37:g.66678188A>T	ENSP00000353377:p.Gln427His					CCDC102B_ENST00000584156.1_Missense_Mutation_p.Q427H|CCDC102B_ENST00000319445.6_Missense_Mutation_p.Q427H	p.Q427H	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN			7	1398	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	427					Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.1281A>T	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	A	10.10	1.257043	0.22965	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.12465	2.68;2.68	5.4	-1.35	0.09114	.	0.137391	0.33610	N	0.004726	T	0.20700	0.0498	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.00346	-1.1800	10	0.52906	T	0.07	-14.5823	9.0573	0.36414	0.5687:0.0:0.4313:0.0	.	427	Q68D86	C102B_HUMAN	H	427	ENSP00000316237:Q427H;ENSP00000353377:Q427H	ENSP00000316237:Q427H	Q	+	3	2	CCDC102B	64829168	0.761000	0.28439	0.128000	0.21923	0.954000	0.61252	-0.239000	0.08965	-0.486000	0.06744	0.528000	0.53228	CAA		0.328	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		9	15	0	0	0	1	0	9	15				
NEFM	4741	broad.mit.edu	37	8	24775399	24775399	+	Silent	SNP	A	A	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:24775399A>G	ENST00000221166.5	+	3	2813	c.2031A>G	c.(2029-2031)aaA>aaG	p.K677K	NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Silent_p.K301K|NEFM_ENST00000437366.2_Silent_p.K638K|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	677	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGGAAGAGAAAGCCAAATCTC	0.473																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(2029-2031)aaA>aaG		neurofilament, medium polypeptide							76.0	80.0	79.0					8																	24775399		2203	4300	6503	SO:0001819	synonymous_variant	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775399A>G	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2031A>G	8.37:g.24775399A>G						NEFM_ENST00000433454.2_Silent_p.K301K|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000437366.2_Silent_p.K638K|NEFM_ENST00000521540.1_Intron	p.K677K			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2813	+		Prostate(55;0.157)	677			6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.		B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	ENST00000221166.5	37	c.2031A>G	CCDS6046.1																																																																																				0.473	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		24	26	0	0	0	1	0	24	26				
CCNB1IP1	57820	broad.mit.edu	37	14	20784496	20784496	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:20784496G>A	ENST00000398169.3	-	5	803	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.R63C			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	63					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R63C(1)	HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AGTTCTGTGCGGACAATATCT	0.502			T	HMGA2	leiomyoma																																	ENST00000398169.3				Dom	yes		14	14q11.2	57820	T	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""			M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	1	Substitution - Missense(1)	p.R63C(1)	lung(1)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(187-189)Cgc>Tgc		cyclin B1 interacting protein 1, E3 ubiquitin protein ligase							115.0	105.0	108.0					14																	20784496		2203	4300	6503	SO:0001583	missense	57820					chromosome|nucleus	ligase activity|metal ion binding|protein binding	g.chr14:20784496G>A	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.187C>T	14.37:g.20784496G>A	ENSP00000381235:p.Arg63Cys					CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.R63C	p.R63C			Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)	5	803	-	all_cancers(95;0.00092)	all_lung(585;0.235)	63						Missense_Mutation	SNP	ENST00000398169.3	37	c.187C>T	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112320	0.56398	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665	.	.	.	6.07	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	L	0.45581	1.43	0.58432	D	0.999999	B	0.29612	0.251	B	0.23574	0.047	T	0.52682	-0.8543	9	0.62326	D	0.03	-12.7922	14.171	0.65510	0.0724:0.0:0.9276:0.0	.	63	Q9NPC3	CIP1_HUMAN	C	63	.	ENSP00000337396:R63C	R	-	1	0	CCNB1IP1	19854336	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.506000	0.60428	1.578000	0.49821	0.655000	0.94253	CGC		0.502	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		20	49	0	0	0	1	0	20	49				
AHNAK	79026	broad.mit.edu	37	11	62296399	62296399	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:62296399A>C	ENST00000378024.4	-	5	5764	c.5490T>G	c.(5488-5490)gaT>gaG	p.D1830E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1830					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GACACTCCAGATCAACATCGG	0.512																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5488-5490)gaT>gaG		AHNAK nucleoprotein							165.0	169.0	168.0					11																	62296399		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296399A>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5490T>G	11.37:g.62296399A>C	ENSP00000367263:p.Asp1830Glu					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D1830E	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	5764	-		Melanoma(852;0.155)	1830					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5490T>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	0.249	-1.008153	0.02112	.	.	ENSG00000124942	ENST00000378024	T	0.01838	4.61	3.37	-6.74	0.01743	.	1.128160	0.06926	U	0.810190	T	0.02533	0.0077	L	0.60067	1.865	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.40850	-0.9541	10	0.27082	T	0.32	.	6.9985	0.24797	0.3492:0.2292:0.4216:0.0	.	1830	Q09666	AHNK_HUMAN	E	1830	ENSP00000367263:D1830E	ENSP00000367263:D1830E	D	-	3	2	AHNAK	62052975	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-2.798000	0.00762	-1.472000	0.01883	-2.754000	0.00123	GAT		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		17	186	0	0	0	1	0	17	186				
EIF4G3	8672	broad.mit.edu	37	1	21268820	21268820	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:21268820T>A	ENST00000264211.8	-	8	853	c.659A>T	c.(658-660)gAg>gTg	p.E220V	EIF4G3_ENST00000374927.4_Missense_Mutation_p.E220V|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000356916.3_Missense_Mutation_p.E231V|EIF4G3_ENST00000602326.1_Missense_Mutation_p.E226V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E226V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E220V|EIF4G3_ENST00000374935.3_Intron	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	220					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTTTGGCTTCTCCTCTGGGGA	0.408																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(676-678)gAg>gTg		eukaryotic translation initiation factor 4 gamma, 3							80.0	87.0	84.0					1																	21268820		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268820T>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.659A>T	1.37:g.21268820T>A	ENSP00000264211:p.Glu220Val					EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000356916.3_Missense_Mutation_p.E231V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.E220V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E220V|EIF4G3_ENST00000374927.4_Missense_Mutation_p.E220V|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E226V	p.E226V	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	12	1260	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	220					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.677A>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761509	0.69763	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.96	5.96	0.96718	.	0.442134	0.27048	N	0.021199	T	0.37156	0.0993	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.83275	0.972;0.986;0.996;0.97;0.991	T	0.26430	-1.0103	10	0.62326	D	0.03	-18.4077	15.0195	0.71617	0.0:0.0:0.0:1.0	.	220;415;346;226;220	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	V	220;416;220;226;346;220;231	ENSP00000264211:E220V;ENSP00000383274:E220V;ENSP00000364073:E226V;ENSP00000364062:E220V	ENSP00000264211:E220V	E	-	2	0	EIF4G3	21141407	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.454000	0.66651	2.285000	0.76669	0.533000	0.62120	GAG		0.408	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		79	67	0	0	0	1	0	79	67				
TET1	80312	broad.mit.edu	37	10	70441247	70441247	+	Splice_Site	SNP	T	T	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr10:70441247T>C	ENST00000373644.4	+	9	5123		c.e9+2			NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1						chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CAAAATCAGGTATGTATTGGT	0.368																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.e9+2		tet methylcytosine dioxygenase 1							71.0	69.0	69.0					10																	70441247		2203	4300	6503	SO:0001630	splice_region_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70441247T>C	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4914+2T>C	10.37:g.70441247T>C								NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			9	5123	+								Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Splice_Site	SNP	ENST00000373644.4	37		CCDS7281.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.569172	0.86439	.	.	ENSG00000138336	ENST00000373644	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5067	0.75745	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TET1	70111253	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.704000	0.84595	2.062000	0.61559	0.455000	0.32223	.		0.368	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	Intron	9	9	0	0	0	1	0	9	9				
STIM1	6786	broad.mit.edu	37	11	4112585	4112585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:4112585C>T	ENST00000300737.4	+	12	2184	c.1615C>T	c.(1615-1617)Cag>Tag	p.Q539*	STIM1_ENST00000527651.1_3'UTR|STIM1_ENST00000533977.1_Nonsense_Mutation_p.Q366*	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	539					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CAAACCTCCTCAGATGAGCCG	0.597																																						ENST00000300737.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1615-1617)Cag>Tag		stromal interaction molecule 1							66.0	64.0	65.0					11																	4112585		2201	4298	6499	SO:0001587	stop_gained	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4112585C>T	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1615C>T	11.37:g.4112585C>T	ENSP00000300737:p.Gln539*					STIM1_ENST00000533977.1_Nonsense_Mutation_p.Q366*|STIM1_ENST00000527651.1_3'UTR	p.Q539*	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	12	2184	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	539					E9PQJ4|Q8N382	Nonsense_Mutation	SNP	ENST00000300737.4	37	c.1615C>T	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162606	0.57368	.	.	ENSG00000167323	ENST00000300737;ENST00000533977	.	.	.	5.15	5.15	0.70609	.	0.395278	0.26816	N	0.022351	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-36.6344	16.479	0.84152	0.0:1.0:0.0:0.0	.	.	.	.	X	539;366	.	ENSP00000300737:Q539X	Q	+	1	0	STIM1	4069161	0.971000	0.33674	1.000000	0.80357	0.979000	0.70002	1.762000	0.38451	2.569000	0.86673	0.655000	0.94253	CAG		0.597	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		31	71	0	0	0	1	0	31	71				
MYO18B	84700	broad.mit.edu	37	22	26423285	26423285	+	Missense_Mutation	SNP	C	C	T	rs149103381	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr22:26423285C>T	ENST00000407587.2	+	43	7517	c.7348C>T	c.(7348-7350)Cgg>Tgg	p.R2450W	MYO18B_ENST00000335473.7_Missense_Mutation_p.R2449W|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2449W			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2449						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCAGCTATCCGGAAGCCCCA	0.552													C|||	11	0.00219649	0.0	0.0043	5008	,	,		19597	0.0		0.007	False		,,,				2504	0.001					ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7345-7347)Cgg>Tgg		myosin XVIIIB		C	TRP/ARG	4,4004		0,4,2000	115.0	118.0	117.0		7345	2.9	1.0	22	dbSNP_134	117	48,8278		0,48,4115	yes	missense	MYO18B	NM_032608.5	101	0,52,6115	TT,TC,CC		0.5765,0.0998,0.4216	probably-damaging	2449/2568	26423285	52,12282	2004	4163	6167	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423285C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7348C>T	22.37:g.26423285C>T	ENSP00000386096:p.Arg2450Trp					MYO18B_ENST00000536101.1_Missense_Mutation_p.R2449W|MYO18B_ENST00000407587.2_Missense_Mutation_p.R2450W	p.R2449W	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7595	+			2449					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7345C>T		8	0.003663003663003663	0	0.0	2	0.0055248618784530384	0	0.0	6	0.0079155672823219	C	15.94	2.982185	0.53827	9.98E-4	0.005765	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.93019	-3.13;-3.13;-3.15	5.17	2.9	0.33743	.	0.000000	0.50627	D	0.000114	D	0.93900	0.8048	M	0.66939	2.045	0.36654	D	0.877567	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.985;0.985;1.0;0.993	D	0.94830	0.7995	10	0.87932	D	0	.	11.895	0.52652	0.4518:0.5482:0.0:0.0	.	1962;2451;2449;2450;2449	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	W	2449;2449;2450	ENSP00000441229:R2449W;ENSP00000334563:R2449W;ENSP00000386096:R2450W	ENSP00000334563:R2449W	R	+	1	2	MYO18B	24753285	0.995000	0.38212	1.000000	0.80357	0.346000	0.29079	0.850000	0.27737	1.104000	0.41587	0.561000	0.74099	CGG		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		11	176	0	0	0	1	0	11	176				
SCAP	22937	broad.mit.edu	37	3	47484397	47484397	+	Silent	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr3:47484397G>T	ENST00000265565.5	-	2	499	c.87C>A	c.(85-87)atC>atA	p.I29I	SCAP_ENST00000441517.2_5'UTR|SCAP_ENST00000545718.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	29					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGAAGAGGATGATGGGGATGG	0.517																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(85-87)atC>atA		SREBF chaperone							168.0	137.0	148.0					3																	47484397		2203	4300	6503	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47484397G>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.87C>A	3.37:g.47484397G>T						SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR	p.I29I	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	2	499	-			29					Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.87C>A	CCDS2755.2																																																																																				0.517	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		13	19	1	0	2.32078e-09	1	2.53049e-09	13	19				
TCEB3C	162699	broad.mit.edu	37	18	44555357	44555357	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr18:44555357G>A	ENST00000330682.2	-	1	1092	c.857C>T	c.(856-858)tCc>tTc	p.S286F	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTCAAAAGCGGACAGCAGATC	0.627																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(856-858)tCc>tTc		transcription elongation factor B polypeptide 3C (elongin A3)							126.0	128.0	127.0					18																	44555357		1368	2753	4121	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555357G>A	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.857C>T	18.37:g.44555357G>A	ENSP00000328232:p.Ser286Phe					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.S286F	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1092	-			286						Missense_Mutation	SNP	ENST00000330682.2	37	c.857C>T	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	9.562	1.118652	0.20877	.	.	ENSG00000183791	ENST00000330682	T	0.12672	2.66	1.2	0.277	0.15668	.	0.930033	0.08857	U	0.883541	T	0.10423	0.0255	L	0.46157	1.445	0.09310	N	1	B	0.30406	0.278	B	0.15052	0.012	T	0.29882	-0.9997	10	0.62326	D	0.03	.	4.2017	0.10469	0.2423:0.0:0.7577:0.0	.	286	Q8NG57	ELOA3_HUMAN	F	286	ENSP00000328232:S286F	ENSP00000328232:S286F	S	-	2	0	TCEB3C	42809355	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.288000	0.18939	0.052000	0.16007	-0.663000	0.03849	TCC		0.627	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		13	463	0	0	0	1	0	13	463				
C12orf50	160419	broad.mit.edu	37	12	88379766	88379766	+	Silent	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr12:88379766C>T	ENST00000298699.2	-	11	1167	c.987G>A	c.(985-987)gcG>gcA	p.A329A	C12orf50_ENST00000550553.1_Silent_p.A290A	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	329										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATGCATTCTCCGCATTTCGAT	0.468																																						ENST00000298699.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						c.(985-987)gcG>gcA		chromosome 12 open reading frame 50							196.0	188.0	190.0					12																	88379766		2203	4300	6503	SO:0001819	synonymous_variant	160419							g.chr12:88379766C>T	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.987G>A	12.37:g.88379766C>T						C12orf50_ENST00000550553.1_Silent_p.A290A	p.A329A	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN			11	1167	-			329					Q6P674	Silent	SNP	ENST00000298699.2	37	c.987G>A	CCDS9031.1																																																																																				0.468	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		38	65	0	0	0	1	0	38	65				
MPEG1	219972	broad.mit.edu	37	11	58978243	58978243	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:58978243C>T	ENST00000361050.3	-	1	2181	c.2096G>A	c.(2095-2097)gGc>gAc	p.G699D		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	699						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TGCTGCAGTGCCTGGAACCAA	0.498																																						ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2095-2097)gGc>gAc		macrophage expressed 1							150.0	149.0	149.0					11																	58978243		2033	4165	6198	SO:0001583	missense	219972					integral to membrane		g.chr11:58978243C>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.2096G>A	11.37:g.58978243C>T	ENSP00000354335:p.Gly699Asp						p.G699D	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	2181	-		all_epithelial(135;0.125)	699					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.2096G>A	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	8.741	0.918924	0.17982	.	.	ENSG00000197629	ENST00000361050	T	0.21734	1.99	5.69	-4.61	0.03380	.	1.414870	0.04436	N	0.370036	T	0.18635	0.0447	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32798	-0.9893	10	0.20519	T	0.43	-1.1073	9.1046	0.36689	0.0:0.6675:0.1141:0.2185	.	699	Q2M385	MPEG1_HUMAN	D	699	ENSP00000354335:G699D	ENSP00000354335:G699D	G	-	2	0	MPEG1	58734819	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.982000	0.03762	-0.661000	0.05345	-0.768000	0.03414	GGC		0.498	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		5	124	0	0	0	1	0	5	124				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			645752							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	145	0	0	0	1	0	4	145				
ALMS1	7840	broad.mit.edu	37	2	73717189	73717189	+	Silent	SNP	A	A	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:73717189A>G	ENST00000264448.6	+	10	8211	c.8100A>G	c.(8098-8100)caA>caG	p.Q2700Q	ALMS1_ENST00000409009.1_Silent_p.Q2658Q|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2700					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTTCATCACAAATGCCGTCCC	0.408																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(8098-8100)caA>caG		Alstrom syndrome 1							163.0	151.0	155.0					2																	73717189		1867	4104	5971	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717189A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8100A>G	2.37:g.73717189A>G						ALMS1_ENST00000409009.1_Silent_p.Q2658Q	p.Q2700Q	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	8211	+			2700					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.8100A>G	CCDS42697.1																																																																																				0.408	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		54	131	0	0	0	1	0	54	131				
TRIM13	10206	broad.mit.edu	37	13	50586468	50586468	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr13:50586468T>C	ENST00000378182.3	+	2	1130	c.392T>C	c.(391-393)aTt>aCt	p.I131T	TRIM13_ENST00000298772.5_Missense_Mutation_p.I134T|TRIM13_ENST00000457662.2_Missense_Mutation_p.I131T|KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000356017.4_Missense_Mutation_p.I134T|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000420995.2_Missense_Mutation_p.I131T	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	131					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TTCTGTTCTATTGAAGATGCC	0.507																																						ENST00000378182.3																			0				large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(391-393)aTt>aCt		tripartite motif containing 13							131.0	119.0	123.0					13																	50586468		2203	4300	6503	SO:0001583	missense	10206				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50586468T>C	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.392T>C	13.37:g.50586468T>C	ENSP00000367424:p.Ile131Thr					TRIM13_ENST00000356017.4_Missense_Mutation_p.I134T|TRIM13_ENST00000420995.2_Missense_Mutation_p.I131T|TRIM13_ENST00000457662.2_Missense_Mutation_p.I131T|TRIM13_ENST00000298772.5_Missense_Mutation_p.I134T|TRIM13_ENST00000478111.1_Intron	p.I131T	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	2	1130	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	131					B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	c.392T>C	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.884028	0.72410	.	.	ENSG00000204977	ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.4	5.4	0.78164	Zinc finger, B-box (3);	0.199538	0.49916	D	0.000133	T	0.51568	0.1682	L	0.44542	1.39	0.47245	D	0.999363	B;B	0.31459	0.324;0.277	P;B	0.44732	0.459;0.329	T	0.47222	-0.9134	9	.	.	.	-2.9531	15.4114	0.74923	0.0:0.0:0.0:1.0	.	131;134	O60858;O60858-3	TRI13_HUMAN;.	T	131;131;131;134;131;134	ENSP00000367425:I131T;ENSP00000412943:I131T;ENSP00000367424:I131T;ENSP00000348299:I134T;ENSP00000399206:I131T;ENSP00000298772:I134T	.	I	+	2	0	TRIM13	49484469	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.004000	0.88535	2.041000	0.60428	0.533000	0.62120	ATT		0.507	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		85	44	0	0	0	1	0	85	44				
SNRPB2	6629	broad.mit.edu	37	20	16717971	16717971	+	Silent	SNP	A	A	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr20:16717971A>G	ENST00000246071.6	+	4	519	c.303A>G	c.(301-303)aaA>aaG	p.K101K	SNRPB2_ENST00000377943.5_Silent_p.K101K	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	101					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						TTGCTGACaaagaaaagaaaa	0.348																																						ENST00000246071.6																			0				large_intestine(2)|lung(2)|urinary_tract(1)	5						c.(301-303)aaA>aaG		small nuclear ribonucleoprotein polypeptide B							57.0	56.0	56.0					20																	16717971		2203	4300	6503	SO:0001819	synonymous_variant	6629					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding	g.chr20:16717971A>G		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"""RNA binding motif (RRM) containing"""	11155	protein-coding gene	gene with protein product		603520	"""small nuclear ribonucleoprotein polypeptide B2"", ""small nuclear ribonucleoprotein polypeptide B''"""			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.303A>G	20.37:g.16717971A>G						SNRPB2_ENST00000377943.5_Silent_p.K101K	p.K101K	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN			4	519	+			101					B2R7J3|D3DW21|Q9UJD4	Silent	SNP	ENST00000246071.6	37	c.303A>G	CCDS13123.1																																																																																				0.348	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	NM_003092		16	55	0	0	0	1	0	16	55				
CCDC73	493860	broad.mit.edu	37	11	32635093	32635093	+	Missense_Mutation	SNP	G	G	A	rs201737265		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:32635093G>A	ENST00000335185.5	-	16	2814	c.2771C>T	c.(2770-2772)tCg>tTg	p.S924L	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	924										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GCAAGGGGTCGAACTGCTCGC	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		16516	0.001		0.0	False		,,,				2504	0.0					ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(2770-2772)tCg>tTg		coiled-coil domain containing 73							126.0	116.0	120.0					11																	32635093		1837	4075	5912	SO:0001583	missense	493860							g.chr11:32635093G>A	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2771C>T	11.37:g.32635093G>A	ENSP00000335325:p.Ser924Leu						p.S924L	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			16	2814	-	Breast(20;0.112)		924					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.2771C>T	CCDS41630.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.192	0.034318	0.08101	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.18	0.492	0.16872	.	1.274690	0.05407	N	0.541652	T	0.33904	0.0879	L	0.38838	1.175	0.20074	N	0.999939	B	0.25169	0.119	B	0.17979	0.02	T	0.29119	-1.0022	9	0.36615	T	0.2	.	10.1385	0.42721	0.3216:0.0:0.6784:0.0	.	924	Q6ZRK6	CCD73_HUMAN	L	924	.	ENSP00000335325:S924L	S	-	2	0	CCDC73	32591669	0.991000	0.36638	0.009000	0.14445	0.015000	0.08874	1.933000	0.40153	0.183000	0.20059	0.544000	0.68410	TCG		0.378	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		31	68	0	0	0	1	0	31	68				
ICE1	23379	broad.mit.edu	37	5	5469087	5469087	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:5469087C>G	ENST00000296564.7	+	15	6430	c.6208C>G	c.(6208-6210)Ctt>Gtt	p.L2070V		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2070					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGAGCTTTTCTTAATTGGGA	0.318																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(6208-6210)Ctt>Gtt		KIAA0947							141.0	136.0	138.0					5																	5469087		1833	4074	5907	SO:0001583	missense	23379							g.chr5:5469087C>G																												ENST00000296564.7:c.6208C>G	5.37:g.5469087C>G	ENSP00000296564:p.Leu2070Val						p.L2070V	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			15	6430	+			2070					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.6208C>G	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151449	0.78001	.	.	ENSG00000164151	ENST00000296564	T	0.16324	2.35	5.86	5.86	0.93980	.	.	.	.	.	T	0.40595	0.1123	L	0.59436	1.845	0.58432	D	0.99999	D	0.76494	0.999	D	0.78314	0.991	T	0.06409	-1.0828	9	0.87932	D	0	-8.1591	17.6924	0.88272	0.0:1.0:0.0:0.0	.	2070	Q9Y2F5	K0947_HUMAN	V	2070	ENSP00000296564:L2070V	ENSP00000296564:L2070V	L	+	1	0	KIAA0947	5522087	1.000000	0.71417	0.270000	0.24601	0.974000	0.67602	3.156000	0.50708	2.781000	0.95711	0.650000	0.86243	CTT		0.318	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			44	104	0	0	0	1	0	44	104				
GLRA1	2741	broad.mit.edu	37	5	151208547	151208547	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr5:151208547C>T	ENST00000455880.2	-	8	1280	c.994G>A	c.(994-996)Gtt>Att	p.V332I	GLRA1_ENST00000545569.1_Missense_Mutation_p.V249I|GLRA1_ENST00000274576.4_Missense_Mutation_p.V332I			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	332					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACAAAGTTAACGGCAGCATAT	0.512																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(994-996)Gtt>Att		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						125.0	121.0	123.0					5																	151208547		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151208547C>T		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.994G>A	5.37:g.151208547C>T	ENSP00000411593:p.Val332Ile					GLRA1_ENST00000455880.2_Missense_Mutation_p.V332I|GLRA1_ENST00000545569.1_Missense_Mutation_p.V249I	p.V332I	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		8	1286	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	332					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.994G>A	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507387	0.85282	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.88741	-2.42;-2.42;-2.42	5.07	5.07	0.68467	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91831	0.7415	M	0.73753	2.245	0.58432	D	0.999999	D;P;P	0.53745	0.962;0.949;0.797	P;P;B	0.49922	0.626;0.547;0.411	D	0.92926	0.6359	10	0.72032	D	0.01	.	18.826	0.92119	0.0:1.0:0.0:0.0	.	332;249;332	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	I	332;332;249	ENSP00000274576:V332I;ENSP00000411593:V332I;ENSP00000445913:V249I	ENSP00000274576:V332I	V	-	1	0	GLRA1	151188740	1.000000	0.71417	0.959000	0.39883	0.892000	0.51952	7.557000	0.82243	2.524000	0.85096	0.650000	0.86243	GTT		0.512	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			53	65	0	0	0	1	0	53	65				
HTR3A	3359	broad.mit.edu	37	11	113860193	113860193	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:113860193G>A	ENST00000504030.2	+	9	1590	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	HTR3A_ENST00000506841.2_Missense_Mutation_p.G414E|HTR3A_ENST00000355556.2_Missense_Mutation_p.G420E|HTR3A_ENST00000535865.1_Missense_Mutation_p.G126E|HTR3A_ENST00000299961.5_Missense_Mutation_p.G367E|HTR3A_ENST00000375498.2_Missense_Mutation_p.G388E			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	382					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CCAGCCATGGGAAACCACTGC	0.587																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1144-1146)gGa>gAa		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						66.0	73.0	71.0					11																	113860193		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860193G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1145G>A	11.37:g.113860193G>A	ENSP00000424189:p.Gly382Glu					HTR3A_ENST00000299961.5_Missense_Mutation_p.G367E|HTR3A_ENST00000355556.2_Missense_Mutation_p.G420E|HTR3A_ENST00000375498.2_Missense_Mutation_p.G388E|HTR3A_ENST00000535865.1_Missense_Mutation_p.G126E|HTR3A_ENST00000506841.2_Missense_Mutation_p.G414E	p.G382E			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	9	1590	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	382					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1145G>A		.	.	.	.	.	.	.	.	.	.	G	3.993	-0.004048	0.07773	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.84589	-1.87;-0.5;-1.87;-0.5;-1.87;-1.87	5.4	-0.701	0.11269	.	1.074710	0.07053	N	0.832377	T	0.78078	0.4227	L	0.55213	1.73	0.09310	N	1	B;B;P	0.37141	0.43;0.404;0.584	B;B;B	0.40782	0.259;0.22;0.34	T	0.61917	-0.6964	10	0.13853	T	0.58	-0.4578	0.3761	0.00387	0.2443:0.2116:0.3149:0.2292	.	367;420;388	B4DSY6;G5E986;Q7KZM7	.;.;.	E	382;420;388;414;126;367	ENSP00000424189:G382E;ENSP00000347754:G420E;ENSP00000364648:G388E;ENSP00000424776:G414E;ENSP00000437776:G126E;ENSP00000299961:G367E	ENSP00000299961:G367E	G	+	2	0	HTR3A	113365403	1.000000	0.71417	0.739000	0.30968	0.117000	0.20001	1.104000	0.31074	0.083000	0.17047	-0.145000	0.13849	GGA		0.587	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		34	132	0	0	0	1	0	34	132				
MYO5A	4644	broad.mit.edu	37	15	52676506	52676506	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr15:52676506G>A	ENST00000399231.3	-	15	2009	c.1766C>T	c.(1765-1767)cCa>cTa	p.P589L	MYO5A_ENST00000356338.6_Missense_Mutation_p.P589L|MYO5A_ENST00000399233.2_Missense_Mutation_p.P589L|MYO5A_ENST00000358212.6_Missense_Mutation_p.P589L|MYO5A_ENST00000553916.1_Missense_Mutation_p.P589L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	589	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAATAGTTCTGGTAGCATCTT	0.423																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(1765-1767)cCa>cTa		myosin VA (heavy chain 12, myoxin)							98.0	102.0	101.0					15																	52676506		1960	4139	6099	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52676506G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1766C>T	15.37:g.52676506G>A	ENSP00000382177:p.Pro589Leu					MYO5A_ENST00000358212.6_Missense_Mutation_p.P589L|MYO5A_ENST00000553916.1_Missense_Mutation_p.P589L|MYO5A_ENST00000399233.2_Missense_Mutation_p.P589L|MYO5A_ENST00000356338.6_Missense_Mutation_p.P589L	p.P589L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	15	2009	-			589			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.1766C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347696	0.41599	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;T;D;D;D;D	0.94828	-3.53;3.04;-3.53;-3.53;-3.53;-3.53	5.27	5.27	0.74061	Myosin head, motor domain (2);	0.353077	0.33813	N	0.004529	D	0.85435	0.5696	N	0.01438	-0.865	0.50039	D	0.99984	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.002	T	0.79985	-0.1572	10	0.33141	T	0.24	.	18.8997	0.92437	0.0:0.0:1.0:0.0	.	589;589	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	L	589;123;589;589;589;219;589	ENSP00000382177:P589L;ENSP00000382175:P123L;ENSP00000382179:P589L;ENSP00000348693:P589L;ENSP00000350945:P589L;ENSP00000451109:P589L	ENSP00000348693:P589L	P	-	2	0	MYO5A	50463798	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.370000	0.52372	2.467000	0.83353	0.650000	0.86243	CCA		0.423	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		27	19	0	0	0	1	0	27	19				
ENTPD5	957	broad.mit.edu	37	14	74439610	74439610	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:74439610C>T	ENST00000334696.6	-	13	1323	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	ENTPD5_ENST00000557325.1_Missense_Mutation_p.R335Q	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	335					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GTCAACAGCTCGGTCATAATA	0.527																																						ENST00000334696.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1003-1005)cGa>cAa		ectonucleoside triphosphate diphosphohydrolase 5							148.0	146.0	147.0					14																	74439610		2203	4300	6503	SO:0001583	missense	957				'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	g.chr14:74439610C>T	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.1004G>A	14.37:g.74439610C>T	ENSP00000335246:p.Arg335Gln					ENTPD5_ENST00000557325.1_Missense_Mutation_p.R335Q	p.R335Q	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)	13	1323	-			335					A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	37	c.1004G>A	CCDS9825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.618485|4.618485	0.87359|0.87359	.|.	.|.	ENSG00000187097|ENSG00000187097	ENST00000555829|ENST00000557325;ENST00000334696	.|T;T	.|0.11063	.|2.81;2.81	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	.|0.058032	.|0.64402	.|D	.|0.000002	T|T	0.42223|0.42223	0.1193|0.1193	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.68943	.|0.961;0.935	T|T	0.47636|0.47636	-0.9102|-0.9102	5|10	.|0.32370	.|T	.|0.25	-25.221|-25.221	18.7465|18.7465	0.91795|0.91795	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|335;335	.|O75356;G3V4I0	.|ENTP5_HUMAN;.	K|Q	10|335	.|ENSP00000451810:R335Q;ENSP00000335246:R335Q	.|ENSP00000335246:R335Q	E|R	-|-	1|2	0|0	ENTPD5|ENTPD5	73509363|73509363	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	5.343000|5.343000	0.65976|0.65976	2.744000|2.744000	0.94065|0.94065	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.527	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		77	150	0	0	0	1	0	77	150				
ADAMTS13	11093	broad.mit.edu	37	9	136320459	136320459	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr9:136320459G>A	ENST00000371929.3	+	25	3746	c.3302G>A	c.(3301-3303)gGa>gAa	p.G1101E	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.G1070E|ADAMTS13_ENST00000371910.1_5'Flank|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.G1101E	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1101	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACCTGCCTCGGACCCCAGGCC	0.662																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(3301-3303)gGa>gAa		ADAM metallopeptidase with thrombospondin type 1 motif, 13							74.0	88.0	83.0					9																	136320459		2203	4300	6503	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136320459G>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.3302G>A	9.37:g.136320459G>A	ENSP00000360997:p.Gly1101Glu					ADAMTS13_ENST00000356589.2_Missense_Mutation_p.G1070E|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.G1101E	p.G1101E	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	25	3746	+			1101			TSP type-1 8.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.3302G>A	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828634	0.32329	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.53423	0.62;0.62;0.62	5.42	2.55	0.30701	.	.	.	.	.	T	0.49047	0.1534	L	0.33710	1.025	0.09310	N	0.999999	D;D;D	0.65815	0.995;0.965;0.987	D;P;P	0.64506	0.926;0.7;0.836	T	0.31861	-0.9928	9	0.15499	T	0.54	.	8.4157	0.32670	0.2444:0.0:0.7556:0.0	.	1101;1070;1101	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	E	1101;1101;1070	ENSP00000360997:G1101E;ENSP00000347927:G1101E;ENSP00000348997:G1070E	ENSP00000347927:G1101E	G	+	2	0	ADAMTS13	135310280	0.232000	0.23762	0.064000	0.19789	0.010000	0.07245	1.657000	0.37366	1.281000	0.44480	0.561000	0.74099	GGA		0.662	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		61	154	0	0	0	1	0	61	154				
WFDC3	140686	broad.mit.edu	37	20	44405772	44405772	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr20:44405772C>G	ENST00000243938.4	-	5	518	c.435G>C	c.(433-435)caG>caC	p.Q145H	WFDC3_ENST00000481847.1_Intron|RNU6ATAC38P_ENST00000408119.1_RNA|WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000372632.2_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	145	WAP 3. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				ATTTATGCCCCTGGGGACAGG	0.552																																						ENST00000243938.4																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(433-435)caG>caC		WAP four-disulfide core domain 3							71.0	57.0	62.0					20																	44405772		2203	4300	6503	SO:0001583	missense	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44405772C>G	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.435G>C	20.37:g.44405772C>G	ENSP00000243938:p.Gln145His					WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372630.2_Intron	p.Q145H	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN			5	518	-		Myeloproliferative disorder(115;0.0122)	145			WAP 3.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Missense_Mutation	SNP	ENST00000243938.4	37	c.435G>C	CCDS33478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.88|15.88	2.962814|2.962814	0.53507|0.53507	.|.	.|.	ENSG00000124116|ENSG00000124116	ENST00000243938|ENST00000337205	T|.	0.72505|.	-0.66|.	4.62|4.62	1.46|1.46	0.22682|0.22682	Whey acidic protein, 4-disulphide core (4);|.	0.457832|.	0.16316|.	N|.	0.219772|.	T|T	0.40040|0.40040	0.1101|0.1101	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D|.	0.62365|.	0.991|.	P|.	0.59115|.	0.852|.	T|T	0.13683|0.13683	-1.0500|-1.0500	10|5	0.51188|.	T|.	0.08|.	-4.1737|-4.1737	3.6093|3.6093	0.08054|0.08054	0.1968:0.5974:0.0:0.2058|0.1968:0.5974:0.0:0.2058	.|.	145|.	Q8IUB2|.	WFDC3_HUMAN|.	H|T	145|139	ENSP00000243938:Q145H|.	ENSP00000243938:Q145H|.	Q|R	-|-	3|2	2|0	WFDC3|WFDC3	43839179|43839179	0.030000|0.030000	0.19436|0.19436	0.996000|0.996000	0.52242|0.52242	0.902000|0.902000	0.53008|0.53008	0.025000|0.025000	0.13577|0.13577	0.711000|0.711000	0.32018|0.32018	-0.136000|-0.136000	0.14681|0.14681	CAG|AGG		0.552	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			5	58	0	0	0	1	0	5	58				
IL17A	3605	broad.mit.edu	37	6	52052595	52052595	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:52052595G>T	ENST00000340057.1	+	2	267	c.222G>T	c.(220-222)tgG>tgT	p.W74C		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	74					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCTCACCTTGGAATCTCCAGT	0.433																																						ENST00000340057.1																			0				endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17						c.(220-222)tgG>tgT		interleukin 17A							120.0	109.0	113.0					6																	52052595		2203	4300	6503	SO:0001583	missense	3605				apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	g.chr6:52052595G>T	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.222G>T	6.37:g.52052595G>T	ENSP00000344192:p.Trp74Cys						p.W74C	NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN			2	267	+	Lung NSC(77;0.116)		74					Q5T2P0	Missense_Mutation	SNP	ENST00000340057.1	37	c.222G>T	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798318	0.70567	.	.	ENSG00000112115	ENST00000340057	T	0.66280	-0.2	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81536	0.4843	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85146	0.0983	10	0.87932	D	0	-19.8702	16.994	0.86361	0.0:0.0:1.0:0.0	.	74	Q16552	IL17_HUMAN	C	74	ENSP00000344192:W74C	ENSP00000344192:W74C	W	+	3	0	IL17A	52160554	1.000000	0.71417	0.975000	0.42487	0.942000	0.58702	5.956000	0.70315	2.692000	0.91855	0.650000	0.86243	TGG		0.433	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		29	73	1	0	2.49534e-26	1	3.03126e-26	29	73				
KNG1	3827	broad.mit.edu	37	3	186459915	186459915	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr3:186459915C>T	ENST00000265023.4	+	10	1942	c.1730C>T	c.(1729-1731)tCa>tTa	p.S577L	KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	577					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		CCTCCTATATCACCAGCTCCC	0.468																																						ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(1729-1731)tCa>tTa		kininogen 1	Ouabain(DB01092)						150.0	141.0	144.0					3																	186459915		1975	4148	6123	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186459915C>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1730C>T	3.37:g.186459915C>T	ENSP00000265023:p.Ser577Leu					KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000599314.1_RNA	p.S577L	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	10	1942	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		577					A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.1730C>T	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	C	1.097	-0.662272	0.03454	.	.	ENSG00000113889	ENST00000265023	T	0.15017	2.46	5.42	1.44	0.22558	.	2.396250	0.01608	N	0.022399	T	0.09247	0.0228	N	0.04508	-0.205	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.29852	-0.9998	9	.	.	.	0.7493	8.0246	0.30430	0.0:0.6481:0.0:0.3519	.	577	P01042	KNG1_HUMAN	L	577	ENSP00000265023:S577L	.	S	+	2	0	KNG1	187942609	0.000000	0.05858	0.069000	0.20011	0.002000	0.02628	-0.201000	0.09464	0.047000	0.15862	-0.140000	0.14226	TCA		0.468	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		94	50	0	0	0	1	0	94	50				
PLEC	5339	broad.mit.edu	37	8	144996018	144996018	+	Silent	SNP	C	C	T	rs368170940		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:144996018C>T	ENST00000322810.4	-	32	8551	c.8382G>A	c.(8380-8382)agG>agA	p.R2794R	PLEC_ENST00000527096.1_Silent_p.R2680R|PLEC_ENST00000398774.2_Silent_p.R2625R|PLEC_ENST00000345136.3_Silent_p.R2657R|PLEC_ENST00000357649.2_Silent_p.R2661R|PLEC_ENST00000436759.2_Silent_p.R2684R|PLEC_ENST00000356346.3_Silent_p.R2643R|PLEC_ENST00000354589.3_Silent_p.R2657R|PLEC_ENST00000354958.2_Silent_p.R2635R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2794	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCTGCAGCCTCTGAGCTG	0.692																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8380-8382)agG>agA		plectin		C	,,,,,,,	1,4229		0,1,2114	13.0	16.0	15.0		8052,7929,7905,8382,7875,7971,7983,7971	1.5	0.6	8		15	0,8438		0,0,4219	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,1,6333	TT,TC,CC		0.0,0.0236,0.0079	,,,,,,,	2684/4575,2643/4534,2635/4526,2794/4685,2625/4516,2657/4548,2661/4552,2657/4548	144996018	1,12667	2115	4219	6334	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144996018C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8382G>A	8.37:g.144996018C>T						PLEC_ENST00000357649.2_Silent_p.R2661R|PLEC_ENST00000398774.2_Silent_p.R2625R|PLEC_ENST00000345136.3_Silent_p.R2657R|PLEC_ENST00000527096.1_Silent_p.R2680R|PLEC_ENST00000354589.3_Silent_p.R2657R|PLEC_ENST00000436759.2_Silent_p.R2684R|PLEC_ENST00000354958.2_Silent_p.R2635R|PLEC_ENST00000356346.3_Silent_p.R2643R	p.R2794R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8551	-			2794			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.8382G>A	CCDS43772.1																																																																																				0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	56	0	0	0	1	0	4	56				
SYNE3	161176	broad.mit.edu	37	14	95921873	95921873	+	Silent	SNP	C	C	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:95921873C>A	ENST00000334258.5	-	5	992	c.978G>T	c.(976-978)ctG>ctT	p.L326L	SYNE3_ENST00000553340.1_Silent_p.L326L|SYNE3_ENST00000554873.1_Silent_p.L83L|SYNE3_ENST00000557275.1_Silent_p.L326L	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	326					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TGGACCGGAGCAGGCCCCGCA	0.637																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(976-978)ctG>ctT		spectrin repeat containing, nuclear envelope family member 3							51.0	59.0	56.0					14																	95921873		2203	4300	6503	SO:0001819	synonymous_variant	161176							g.chr14:95921873C>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.978G>T	14.37:g.95921873C>A						SYNE3_ENST00000553340.1_Silent_p.L326L|SYNE3_ENST00000554873.1_Silent_p.L83L|SYNE3_ENST00000557275.1_Silent_p.L326L	p.L326L	NM_152592.3	NP_689805.3					5	992	-								A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.978G>T	CCDS9935.1																																																																																				0.637	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		53	113	1	0	1.83081e-24	1	2.20918e-24	53	113				
OBSCN	84033	broad.mit.edu	37	1	228461719	228461719	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:228461719G>C	ENST00000422127.1	+	18	5430	c.5386G>C	c.(5386-5388)Gag>Cag	p.E1796Q	OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1796Q|OBSCN_ENST00000359599.6_Missense_Mutation_p.E643Q|OBSCN_ENST00000570156.2_Missense_Mutation_p.E2171Q|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1796	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTGGGCGCAGAGGGGCAGGA	0.682																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(6511-6513)Gag>Cag		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							20.0	24.0	23.0					1																	228461719		2098	4202	6300	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228461719G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5386G>C	1.37:g.228461719G>C	ENSP00000409493:p.Glu1796Gln					OBSCN_ENST00000422127.1_Missense_Mutation_p.E1796Q|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1796Q|OBSCN_ENST00000359599.6_Missense_Mutation_p.E643Q|OBSCN_ENST00000366709.4_5'UTR	p.E2171Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			22	6585	+		Prostate(94;0.0405)	1151			Ig-like 22.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.6511G>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	9.688	1.151059	0.21371	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.69040	-0.37;-0.37;-0.37	5.38	-2.13	0.07144	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);	1.027300	0.07768	N	0.951194	T	0.65080	0.2657	L	0.48362	1.52	0.18873	N	0.999982	D;D	0.53745	0.961;0.962	P;B	0.55749	0.783;0.39	T	0.55982	-0.8054	10	0.14656	T	0.56	.	7.2443	0.26114	0.2259:0.4033:0.3708:0.0	.	1796;1796	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	1796;1796;643	ENSP00000284548:E1796Q;ENSP00000409493:E1796Q;ENSP00000352613:E643Q	ENSP00000284548:E1796Q	E	+	1	0	OBSCN	226528342	0.103000	0.21917	0.000000	0.03702	0.040000	0.13550	2.678000	0.46900	-0.635000	0.05531	-0.314000	0.08810	GAG		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		13	40	0	0	0	1	0	13	40				
ZDHHC4	55146	broad.mit.edu	37	7	6621830	6621830	+	Silent	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:6621830G>T	ENST00000396706.2	+	5	761	c.318G>T	c.(316-318)ctG>ctT	p.L106L	ZDHHC4_ENST00000335965.6_Silent_p.L106L|ZDHHC4_ENST00000396709.1_Silent_p.L106L|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Silent_p.L106L|ZDHHC4_ENST00000396713.2_Silent_p.L106L|ZDHHC4_ENST00000405731.3_Silent_p.L106L			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	106						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGCCCTATCTGCTGCTAGGTG	0.468																																						ENST00000396706.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(316-318)ctG>ctT		zinc finger, DHHC-type containing 4							301.0	265.0	277.0					7																	6621830		2203	4300	6503	SO:0001819	synonymous_variant	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6621830G>T	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.318G>T	7.37:g.6621830G>T						ZDHHC4_ENST00000405731.3_Silent_p.L106L|ZDHHC4_ENST00000396713.2_Silent_p.L106L|ZDHHC4_ENST00000396709.1_Silent_p.L106L|ZDHHC4_ENST00000396707.2_Silent_p.L106L|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000335965.6_Silent_p.L106L	p.L106L			Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	5	761	+		Ovarian(82;0.232)	106					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Silent	SNP	ENST00000396706.2	37	c.318G>T	CCDS5352.1																																																																																				0.468	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		72	248	1	0	7.25294e-45	1	8.99166e-45	72	248				
GPR75-ASB3	100302652	broad.mit.edu	37	2	53897731	53897731	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:53897731G>T	ENST00000263634.3	-	10	1600	c.1466C>A	c.(1465-1467)cCa>cAa	p.P489Q	GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.P527Q|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.P416Q|ASB3_ENST00000406625.2_Missense_Mutation_p.P524Q|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.P416Q	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		TCTGGGAAGTGGCAGCTGACT	0.433																																						ENST00000263634.3																			0											c.(1465-1467)cCa>cAa									74.0	72.0	73.0					2																	53897731		2203	4300	6503	SO:0001583	missense	100302652				intracellular signal transduction			g.chr2:53897731G>T		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.1466C>A	2.37:g.53897731G>T	ENSP00000263634:p.Pro489Gln					GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.P527Q|ASB3_ENST00000406625.2_Missense_Mutation_p.P524Q|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.P416Q|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.P416Q	p.P489Q	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN			10	1600	-			524						Missense_Mutation	SNP	ENST00000263634.3	37	c.1466C>A	CCDS1846.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525867	0.44969	.	.	ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.54	4.61	0.57282	SOCS protein, C-terminal (3);	0.058927	0.64402	D	0.000002	T	0.75715	0.3887	M	0.71296	2.17	0.41991	D	0.990845	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82388	-0.0482	9	0.87932	D	0	-3.2064	10.8519	0.46775	0.0:0.0:0.812:0.188	.	524;489	Q2TAI4;Q9Y575	.;ASB3_HUMAN	Q	489;524;416;416;527;408	ENSP00000263634:P489Q;ENSP00000385085:P524Q;ENSP00000384728:P416Q;ENSP00000378206:P416Q;ENSP00000313756:P527Q	ENSP00000263634:P489Q	P	-	2	0	ASB3	53751235	0.998000	0.40836	0.971000	0.41717	0.091000	0.18340	2.862000	0.48388	2.590000	0.87494	0.563000	0.77884	CCA		0.433	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			10	33	1	0	7.48243e-07	1	8.01373e-07	10	33				
KLHL1	57626	broad.mit.edu	37	13	70514279	70514279	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr13:70514279G>T	ENST00000377844.4	-	4	1666	c.907C>A	c.(907-909)Cac>Aac	p.H303N	KLHL1_ENST00000545028.1_Missense_Mutation_p.H110N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	303					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATGAGGAAGTGGCAGCACACT	0.473																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(907-909)Cac>Aac		kelch-like family member 1							75.0	67.0	70.0					13																	70514279		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70514279G>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.907C>A	13.37:g.70514279G>T	ENSP00000367075:p.His303Asn					KLHL1_ENST00000545028.1_Missense_Mutation_p.H110N	p.H303N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	4	1666	-		Breast(118;0.000162)	303					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.907C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	9.244	1.038926	0.19669	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.69435	-0.4;-0.4	5.67	5.67	0.87782	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000001	T	0.34279	0.0892	N	0.00652	-1.29	0.32937	D	0.517903	B;B	0.06786	0.001;0.0	B;B	0.17098	0.017;0.001	T	0.41161	-0.9524	10	0.12430	T	0.62	.	14.5896	0.68354	0.0:0.0:0.8541:0.1459	.	303;303	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	N	303;110	ENSP00000367075:H303N;ENSP00000439602:H110N	ENSP00000367075:H303N	H	-	1	0	KLHL1	69412280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.352000	0.52239	2.671000	0.90904	0.557000	0.71058	CAC		0.473	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		15	9	1	0	2.23348e-06	1	2.378e-06	15	9				
UGT2B28	54490	broad.mit.edu	37	4	70160521	70160521	+	Silent	SNP	A	A	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr4:70160521A>G	ENST00000335568.5	+	6	1586	c.1584A>G	c.(1582-1584)agA>agG	p.R528R	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	528					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGGAAAAAGAGATTAGTTAT	0.378																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1582-1584)agA>agG		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						94.0	105.0	102.0					4																	70160521		2024	4233	6257	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70160521A>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1584A>G	4.37:g.70160521A>G						UGT2B28_ENST00000511240.1_3'UTR	p.R528R	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			6	1586	+			528					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.1584A>G	CCDS3528.1																																																																																				0.378	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		37	77	0	0	0	1	0	37	77				
C11orf63	79864	broad.mit.edu	37	11	122817446	122817446	+	Silent	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:122817446C>T	ENST00000531316.1	+	5	1967	c.1875C>T	c.(1873-1875)ggC>ggT	p.G625G	C11orf63_ENST00000227349.2_Silent_p.G625G			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	625					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ATTCTGAAGGCTATCTGTTTC	0.393																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1873-1875)ggC>ggT		chromosome 11 open reading frame 63							70.0	71.0	70.0					11																	122817446		2202	4299	6501	SO:0001819	synonymous_variant	79864							g.chr11:122817446C>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1875C>T	11.37:g.122817446C>T						C11orf63_ENST00000531316.1_Silent_p.G625G	p.G625G	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	6	2172	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	625					A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	c.1875C>T	CCDS8438.1																																																																																				0.393	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		13	33	0	0	0	1	0	13	33				
IQCB1	9657	broad.mit.edu	37	3	121491509	121491509	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr3:121491509C>T	ENST00000310864.6	-	14	1676	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	IQCB1_ENST00000349820.6_Missense_Mutation_p.E355K	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	488					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TGCAGTCGTTCTTGAGCTTGG	0.517																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(1462-1464)Gaa>Aaa		IQ motif containing B1							181.0	165.0	170.0					3																	121491509		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121491509C>T	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1462G>A	3.37:g.121491509C>T	ENSP00000311505:p.Glu488Lys					IQCB1_ENST00000349820.6_Missense_Mutation_p.E355K	p.E488K	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	14	1676	-			488					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1462G>A	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045251	0.55110	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.76968	-1.06;-1.06	4.98	4.11	0.48088	.	0.324184	0.33980	N	0.004370	D	0.82490	0.5048	L	0.59436	1.845	0.39323	D	0.965271	P;D	0.71674	0.956;0.998	D;D	0.66084	0.931;0.941	T	0.81953	-0.0697	10	0.40728	T	0.16	-3.9932	9.2308	0.37437	0.0:0.9025:0.0:0.0975	.	488;355	Q15051;Q15051-2	IQCB1_HUMAN;.	K	488;355	ENSP00000311505:E488K;ENSP00000323756:E355K	ENSP00000311505:E488K	E	-	1	0	IQCB1	122974199	1.000000	0.71417	0.998000	0.56505	0.413000	0.31143	3.334000	0.52097	1.315000	0.45114	0.650000	0.86243	GAA		0.517	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		41	94	0	0	0	1	0	41	94				
SLC17A3	10786	broad.mit.edu	37	6	25849663	25849663	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:25849663C>G	ENST00000360657.3	-	10	1352	c.1067G>C	c.(1066-1068)aGa>aCa	p.R356T	SLC17A3_ENST00000397060.4_Missense_Mutation_p.R434T|SLC17A3_ENST00000361703.6_Missense_Mutation_p.R356T			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	356					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CGAAAATCCTCTTGATGCTCC	0.443																																						ENST00000397060.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						c.(1300-1302)aGa>aCa		solute carrier family 17 (organic anion transporter), member 3							98.0	86.0	90.0					6																	25849663		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25849663C>G	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.1067G>C	6.37:g.25849663C>G	ENSP00000353873:p.Arg356Thr					SLC17A3_ENST00000360657.3_Missense_Mutation_p.R356T|SLC17A3_ENST00000361703.6_Missense_Mutation_p.R356T	p.R434T	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN			11	1410	-			356					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.1301G>C	CCDS4566.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.960|3.960	-0.010584|-0.010584	0.07727|0.07727	.|.	.|.	ENSG00000124564|ENSG00000124564	ENST00000481949|ENST00000397060;ENST00000360657;ENST00000361703	.|T;T;T	.|0.57436	.|0.4;0.4;0.4	4.4|4.4	3.5|3.5	0.40072|0.40072	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.138831	.|0.32753	.|N	.|0.005696	T|T	0.21718|0.21718	0.0523|0.0523	L|L	0.39566|0.39566	1.225|1.225	0.09310|0.09310	N|N	1|1	.|B;B	.|0.25904	.|0.025;0.137	.|B;B	.|0.24701	.|0.055;0.055	T|T	0.04191|0.04191	-1.0970|-1.0970	5|10	.|0.25751	.|T	.|0.34	.|.	8.8862|8.8862	0.35404|0.35404	0.0:0.8866:0.0:0.1134|0.0:0.8866:0.0:0.1134	.|.	.|434;356	.|B7Z511;O00476	.|.;NPT4_HUMAN	Q|T	35|434;356;356	.|ENSP00000380250:R434T;ENSP00000353873:R356T;ENSP00000355307:R356T	.|ENSP00000353873:R356T	E|R	-|-	1|2	0|0	SLC17A3|SLC17A3	25957642|25957642	0.009000|0.009000	0.17119|0.17119	0.009000|0.009000	0.14445|0.14445	0.028000|0.028000	0.11728|0.11728	2.121000|2.121000	0.41977|0.41977	2.150000|2.150000	0.67090|0.67090	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.443	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			15	42	0	0	0	1	0	15	42				
SPON2	10417	broad.mit.edu	37	4	1164230	1164230	+	Silent	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr4:1164230G>T	ENST00000290902.5	-	5	1103	c.771C>A	c.(769-771)gtC>gtA	p.V257V	SPON2_ENST00000431380.1_Silent_p.V257V|RP11-20I20.4_ENST00000609548.1_RNA	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	257					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TGCTGGGCAGGACTGGGGCGG	0.647																																						ENST00000290902.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(769-771)gtC>gtA		spondin 2, extracellular matrix protein							131.0	129.0	130.0					4																	1164230		2203	4300	6503	SO:0001819	synonymous_variant	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1164230G>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.771C>A	4.37:g.1164230G>T						SPON2_ENST00000431380.1_Silent_p.V257V	p.V257V	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	5	1103	-			257					D3DVN9|Q4W5N4|Q9ULW1	Silent	SNP	ENST00000290902.5	37	c.771C>A	CCDS3347.1																																																																																				0.647	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			56	183	1	0	2.08403e-16	1	2.3874e-16	56	183				
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.V173M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCCTCACAACCTCCGTC	0.662		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM070299	TP53	M		c.(517-519)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							51.0	51.0	51.0					17																	7578413		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578413C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.517G>A	17.37:g.7578413C>T	ENSP00000269305:p.Val173Met	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR	p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	649	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.517G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408040	0.83340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	5.59	5.59	0.84812	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	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.999;1.0;0.978;0.99;1.0	D	0.96586	0.9434	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173M;ENSP00000352610:V173M;ENSP00000269305:V173M;ENSP00000398846:V173M;ENSP00000391127:V173M;ENSP00000391478:V173M;ENSP00000425104:V41M;ENSP00000423862:V80M	ENSP00000269305:V173M	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	22	0	0	0	1	0	25	22				
PLXNA3	55558	broad.mit.edu	37	X	153688920	153688920	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chrX:153688920G>A	ENST00000369682.3	+	2	572	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	133	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGCTGGGTGAGCCGCACCA	0.662																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(397-399)Gag>Aag		plexin A3							46.0	48.0	47.0					X																	153688920		2203	4299	6502	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688920G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.397G>A	X.37:g.153688920G>A	ENSP00000358696:p.Glu133Lys						p.E133K	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	572	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		133			Sema.		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.397G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820080	0.90873	.	.	ENSG00000130827	ENST00000369682	T	0.05081	3.5	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.27349	0.0671	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01753	-1.1281	10	0.62326	D	0.03	.	16.0416	0.80687	0.0:0.0:1.0:0.0	.	133	P51805	PLXA3_HUMAN	K	133	ENSP00000358696:E133K	ENSP00000358696:E133K	E	+	1	0	PLXNA3	153342114	1.000000	0.71417	0.790000	0.31976	0.742000	0.42306	9.639000	0.98448	2.392000	0.81423	0.423000	0.28283	GAG		0.662	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		58	45	0	0	0	1	0	58	45				
FSHR	2492	broad.mit.edu	37	2	49191037	49191037	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr2:49191037C>A	ENST00000406846.2	-	10	1042	c.923G>T	c.(922-924)aGg>aTg	p.R308M	FSHR_ENST00000304421.4_Missense_Mutation_p.R282M|FSHR_ENST00000541117.1_Missense_Mutation_p.R44M|FSHR_ENST00000346173.3_Missense_Mutation_p.R246M	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	308					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCTCTGACCCCTAGCCTGAGT	0.388									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(922-924)aGg>aTg		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						198.0	182.0	187.0					2																	49191037		2203	4300	6503	SO:0001583	missense	2492	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49191037C>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.923G>T	2.37:g.49191037C>A	ENSP00000384708:p.Arg308Met					FSHR_ENST00000346173.3_Missense_Mutation_p.R246M|FSHR_ENST00000304421.4_Missense_Mutation_p.R282M|FSHR_ENST00000541117.1_Missense_Mutation_p.R44M	p.R308M	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1042	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	308					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.923G>T	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518539	0.27211	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117;ENST00000454032	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.53	1.7	0.24286	Gonadotropin hormone receptor, transmembrane domain (1);	0.423208	0.25671	N	0.029071	T	0.55194	0.1905	L	0.48642	1.525	0.22911	N	0.998577	P;P;P	0.43477	0.808;0.654;0.808	P;P;P	0.47162	0.54;0.532;0.54	T	0.44003	-0.9356	9	.	.	.	.	5.4174	0.16382	0.1287:0.5344:0.0:0.337	.	282;246;308	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	M	308;246;282;44;246	ENSP00000384708:R308M;ENSP00000333908:R246M;ENSP00000306780:R282M;ENSP00000444172:R44M;ENSP00000415504:R246M	.	R	-	2	0	FSHR	49044541	0.004000	0.15560	0.996000	0.52242	0.958000	0.62258	0.031000	0.13710	0.451000	0.26802	-0.137000	0.14449	AGG		0.388	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			29	89	1	0	1.39649e-27	1	1.70787e-27	29	89				
LRRC4C	57689	broad.mit.edu	37	11	40137054	40137054	+	Silent	SNP	A	A	G			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr11:40137054A>G	ENST00000278198.2	-	2	2752	c.789T>C	c.(787-789)ttT>ttC	p.F263F	LRRC4C_ENST00000530763.1_Silent_p.F263F|LRRC4C_ENST00000527150.1_Silent_p.F263F|LRRC4C_ENST00000528697.1_Silent_p.F263F			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	263					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAAGGTTGTCAAAGGCATTCC	0.453																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(787-789)ttT>ttC		leucine rich repeat containing 4C							156.0	123.0	134.0					11																	40137054		2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137054A>G	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.789T>C	11.37:g.40137054A>G						LRRC4C_ENST00000527150.1_Silent_p.F263F|LRRC4C_ENST00000530763.1_Silent_p.F263F|LRRC4C_ENST00000528697.1_Silent_p.F263F	p.F263F			Q9HCJ2	LRC4C_HUMAN			2	2752	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	263					A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.789T>C	CCDS31464.1																																																																																				0.453	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		28	76	0	0	0	1	0	28	76				
SRMS	6725	broad.mit.edu	37	20	62173919	62173919	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr20:62173919C>A	ENST00000217188.1	-	4	701	c.661G>T	c.(661-663)Gac>Tac	p.D221Y		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	221					peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TCCCACACGTCCTGCCTCGGG	0.692																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(661-663)Gac>Tac		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							43.0	42.0	42.0					20																	62173919		2201	4298	6499	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62173919C>A		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.661G>T	20.37:g.62173919C>A	ENSP00000217188:p.Asp221Tyr						p.D221Y	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		4	701	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		221						Missense_Mutation	SNP	ENST00000217188.1	37	c.661G>T	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901305	0.52227	.	.	ENSG00000125508	ENST00000217188	T	0.11385	2.78	4.73	4.73	0.59995	Protein kinase-like domain (1);SH2 motif (1);	0.000000	0.64402	D	0.000016	T	0.16811	0.0404	N	0.08118	0	0.58432	D	0.999996	D	0.89917	1.0	D	0.74674	0.984	T	0.36817	-0.9732	10	0.87932	D	0	.	17.3199	0.87233	0.0:1.0:0.0:0.0	.	221	Q9H3Y6	SRMS_HUMAN	Y	221	ENSP00000217188:D221Y	ENSP00000217188:D221Y	D	-	1	0	SRMS	61644363	1.000000	0.71417	0.881000	0.34555	0.031000	0.12232	5.337000	0.65941	2.193000	0.70182	0.561000	0.74099	GAC		0.692	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		21	34	1	0	6.44725e-10	1	7.07244e-10	21	34				
DAB1	1600	broad.mit.edu	37	1	57480679	57480679	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:57480679C>T	ENST00000371231.1	-	13	1454	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	DAB1_ENST00000439789.2_Missense_Mutation_p.E355K|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.E441K|DAB1_ENST00000371234.4_Missense_Mutation_p.E441K|DAB1_ENST00000414851.2_Missense_Mutation_p.E423K|DAB1_ENST00000420954.2_Missense_Mutation_p.E439K			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	474					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GAGAAGGCCTCTGAGGTACAG	0.542																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(1321-1323)Gag>Aag		Dab, reelin signal transducer, homolog 1 (Drosophila)							71.0	73.0	72.0					1																	57480679		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57480679C>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1420G>A	1.37:g.57480679C>T	ENSP00000360275:p.Glu474Lys					DAB1_ENST00000371234.4_Missense_Mutation_p.E441K|DAB1_ENST00000439789.2_Missense_Mutation_p.E355K|DAB1_ENST00000420954.2_Missense_Mutation_p.E439K|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.E423K|DAB1_ENST00000371231.1_Missense_Mutation_p.E474K	p.E441K			O75553	DAB1_HUMAN			12	1584	-			474					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1321G>A		.	.	.	.	.	.	.	.	.	.	C	23.9	4.468627	0.84533	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.47177	0.88;0.88;0.85;0.86;1.87;0.87	5.54	5.54	0.83059	.	0.193546	0.53938	D	0.000043	T	0.56411	0.1983	L	0.47716	1.5	0.58432	D	0.999996	P;P;P;P;P	0.50528	0.865;0.907;0.935;0.936;0.935	P;P;P;P;P	0.53313	0.501;0.65;0.7;0.723;0.7	T	0.47235	-0.9133	10	0.34782	T	0.22	-40.9357	19.6787	0.95950	0.0:1.0:0.0:0.0	.	423;474;441;355;439	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	K	441;441;441;439;423;355;474	ENSP00000360280:E441K;ENSP00000360278:E441K;ENSP00000395296:E439K;ENSP00000387581:E423K;ENSP00000409328:E355K;ENSP00000360275:E474K	ENSP00000360275:E474K	E	-	1	0	DAB1	57253267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.890000	0.99128	0.650000	0.86243	GAG		0.542	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		18	43	0	0	0	1	0	18	43				
PLEKHM1P	440456	broad.mit.edu	37	17	62796837	62796837	+	RNA	SNP	C	C	T	rs568426516		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr17:62796837C>T	ENST00000582986.1	-	0	1083					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										CAGCTCAAAGCGCCCGTCACT	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19023	0.0		0.0	False		,,,				2504	0.0					ENST00000582986.1																			0																																																			440456							g.chr17:62796837C>T			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62796837C>T								NR_024386.1						0	1083	-									RNA	SNP	ENST00000582986.1	37																																																																																						0.642	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		10	35	0	0	0	1	0	10	35				
INF2	64423	broad.mit.edu	37	14	105174823	105174823	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:105174823G>C	ENST00000392634.4	+	9	1898	c.1786G>C	c.(1786-1788)Gag>Cag	p.E596Q	INF2_ENST00000330634.7_Missense_Mutation_p.E596Q	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	596	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CGAGGCTGTGGAGCCCGACTT	0.682											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1786-1788)Gag>Cag		inverted formin, FH2 and WH2 domain containing							35.0	41.0	39.0					14																	105174823		1938	4130	6068	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174823G>C	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1786G>C	14.37:g.105174823G>C	ENSP00000376410:p.Glu596Gln		OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1387	INF2_ENST00000330634.7_Missense_Mutation_p.E596Q	p.E596Q	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	9	1898	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	596			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.1786G>C	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516480	0.44763	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.18657	2.2;2.2	4.04	4.04	0.47022	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	U	0.000000	T	0.35682	0.0940	L	0.35793	1.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.15925	-1.0420	10	0.66056	D	0.02	.	13.9624	0.64188	0.0:0.0:1.0:0.0	.	596;596	Q27J81-2;Q27J81	.;INF2_HUMAN	Q	596	ENSP00000376406:E596Q;ENSP00000376410:E596Q	ENSP00000252527:E64Q	E	+	1	0	INF2	104245868	1.000000	0.71417	0.991000	0.47740	0.296000	0.27459	5.912000	0.69948	1.792000	0.52537	0.561000	0.74099	GAG		0.682	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		20	55	0	0	0	1	0	20	55				
ADCY1	107	broad.mit.edu	37	7	45697483	45697483	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:45697483G>A	ENST00000297323.7	+	6	1328	c.1306G>A	c.(1306-1308)Ggg>Agg	p.G436R	ADCY1_ENST00000432715.1_Splice_Site_p.G211R	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	436					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGGCCTGCCAGGGTAAGTCGG	0.617																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.e6+1		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						34.0	26.0	29.0					7																	45697483		2203	4300	6503	SO:0001630	splice_region_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45697483G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1307+1G>A	7.37:g.45697483G>A						ADCY1_ENST00000432715.1_Splice_Site_p.G211_splice	p.G436_splice	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			6	1328	+			436					A4D2L8|Q75MI1	Splice_Site	SNP	ENST00000297323.7	37	c.1307_splice	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760361	0.89932	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.86627	-2.15;-2.15	4.59	4.59	0.56863	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.95137	0.8424	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.987;0.996	D	0.96206	0.9149	10	0.87932	D	0	.	15.2596	0.73613	0.0:0.0:1.0:0.0	.	436;211	Q08828;C9J1J0	ADCY1_HUMAN;.	R	211;436;436	ENSP00000392721:G211R;ENSP00000297323:G436R	ENSP00000297323:G436R	G	+	1	0	ADCY1	45664008	1.000000	0.71417	0.954000	0.39281	0.912000	0.54170	8.926000	0.92839	2.527000	0.85204	0.655000	0.94253	GGG		0.617	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	Missense_Mutation	6	5	0	0	0	1	0	6	5				
NOC4L	79050	broad.mit.edu	37	12	132633409	132633409	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr12:132633409G>T	ENST00000330579.1	+	9	911	c.870G>T	c.(868-870)atG>atT	p.M290I	NOC4L_ENST00000538784.1_5'Flank|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	290					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCACGCTCATGATCGACTTCC	0.677																																						ENST00000330579.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(868-870)atG>atT		nucleolar complex associated 4 homolog (S. cerevisiae)							29.0	24.0	25.0					12																	132633409		2192	4289	6481	SO:0001583	missense	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132633409G>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.870G>T	12.37:g.132633409G>T	ENSP00000328854:p.Met290Ile					NOC4L_ENST00000535343.1_3'UTR	p.M290I	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	9	911	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		290					Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	c.870G>T	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	g	13.40	2.226855	0.39399	.	.	ENSG00000184967	ENST00000330579;ENST00000541954	T;T	0.62639	0.01;1.4	5.44	5.44	0.79542	.	0.038583	0.85682	D	0.000000	T	0.58935	0.2157	L	0.58302	1.8	0.80722	D	1	B	0.19706	0.038	B	0.21151	0.033	T	0.56768	-0.7924	10	0.45353	T	0.12	-43.714	13.2919	0.60276	0.0771:0.0:0.9229:0.0	.	290	Q9BVI4	NOC4L_HUMAN	I	290;257	ENSP00000328854:M290I;ENSP00000438255:M257I	ENSP00000328854:M290I	M	+	3	0	NOC4L	131199362	1.000000	0.71417	0.986000	0.45419	0.033000	0.12548	6.788000	0.75105	2.566000	0.86566	0.537000	0.68136	ATG		0.677	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		6	20	1	0	0.000157383	1	0.00016094	6	20				
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		7	140						7	140	---	---	---	---
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-	rs149892509		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1.0		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	124						7	124	---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:160589601delT	ENST00000302035.6	-	5	1178	c.829delA	c.(829-831)agcfs	p.S277fs	SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	277					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433																																						ENST00000302035.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(829-831)gcfs		signaling lymphocytic activation molecule family member 1							265.0	264.0	264.0					1																	160589601		2203	4300	6503	SO:0001589	frameshift_variant	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160589601delT	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.829delA	1.37:g.160589601delT	ENSP00000306190:p.Ser277fs					SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs	p.S277fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		5	1178	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		277					Q5W172|Q9HBE8	Frame_Shift_Del	DEL	ENST00000302035.6	37	c.829delA	CCDS1207.1																																																																																				0.433	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			8	213						8	213	---	---	---	---
PPFIA4	8497	broad.mit.edu	37	1	203014590	203014591	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr1:203014590_203014591insA	ENST00000447715.2	+	11	1202_1203	c.761_762insA	c.(760-765)acaaccfs	p.T255fs	PPFIA4_ENST00000414050.2_5'Flank|PPFIA4_ENST00000367240.2_Frame_Shift_Ins_p.T255fs|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	255					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACCCTAACAACAACCGTGACTG	0.639																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(760-762)aacfs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4																																				SO:0001589	frameshift_variant	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203014590_203014591insA	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.763dupA	1.37:g.203014592_203014592dupA	ENSP00000402576:p.Thr255fs					PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Frame_Shift_Ins_p.N254fs	p.N254fs			O75335	LIPA4_HUMAN			7	1288_1289	+			171					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Frame_Shift_Ins	INS	ENST00000447715.2	37	c.761_762insA																																																																																					0.639	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		10	26						10	26	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr4:123302211delA	ENST00000296513.2	+	4	422	c.237delA	c.(235-237)ccafs	p.P79fs	ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	79					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(235-237)ccfs		adenosine deaminase domain containing 1 (testis-specific)							63.0	70.0	68.0					4																	123302211		2202	4300	6502	SO:0001589	frameshift_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123302211delA	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.237delA	4.37:g.123302211delA	ENSP00000296513:p.Pro79fs					ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000492454.1_3'UTR	p.P79fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			4	422	+			79					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Frame_Shift_Del	DEL	ENST00000296513.2	37	c.237delA	CCDS34058.1																																																																																				0.358	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		8	81						8	81	---	---	---	---
PXT1	222659	broad.mit.edu	37	6	36359653	36359653	+	Splice_Site	DEL	T	T	-			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr6:36359653delT	ENST00000454782.2	-	5	784		c.e5-2		RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1						positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|peroxisome (GO:0005777)											TTGAAGATCCTATTTGAAAAA	0.308																																						ENST00000454782.2																			0											c.e5-2		peroxisomal, testis specific 1							77.0	79.0	78.0					6																	36359653		2203	4300	6503	SO:0001630	splice_region_variant	222659					peroxisome		g.chr6:36359653delT	AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165			18312	protein-coding gene	gene with protein product							Standard	NM_152990		Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.301-2A>-	6.37:g.36359653delT						RP1-50J22.4_ENST00000411643.1_RNA		NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN			5	784	-								J3KR74	Splice_Site	DEL	ENST00000454782.2	37		CCDS4820.2																																																																																				0.308	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357516.2	NM_152990	Intron	14	74						14	74	---	---	---	---
PMS2P3	5387	broad.mit.edu	37	7	75142142	75142142	+	RNA	DEL	A	A	-	rs35519730	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:75142142delA	ENST00000418756.1	-	0	991				Y_RNA_ENST00000364004.1_RNA	NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						tctcaaaaagaaaaaaaaaaa	0.418													|||unknown(NO_COVERAGE)	2287	0.456669	0.1619	0.6037	5008	,	,		12703	0.6558		0.4861	False		,,,				2504	0.5153				NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														5387							g.chr7:75142142delA	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75142142delA								NR_028059.1						0	991	-								A6NG70|Q3MJ29	RNA	DEL	ENST00000418756.1	37																																																																																						0.418	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		4	1						4	1	---	---	---	---
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs58370593	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA					STEAP2 antisense RNA 1																		GGTGCGGGCCTCCCCCTTCCCC	0.639													?|CCCCC|CCCCCC|unsure	3349	0.66873	0.7171	0.621	5008	,	,		14308	0.8095		0.5199	False		,,,				2504	0.6452					ENST00000478318.2																			0																																																			100874100							g.chr7:89748927_89748928insC			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89748932_89748932dupC						RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA								0	424	-									RNA	INS	ENST00000478318.2	37																																																																																						0.639	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			4	4						4	4	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del	p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		4	4						4	4	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77766232	77766232	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:77766232delG	ENST00000521891.2	+	10	7523	c.7075delG	c.(7075-7077)gtgfs	p.V2360fs	ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.V2334fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.V2315fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.V2315fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2315	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACTGATCAAGTGGTATACAA	0.493										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7075-7077)tgfs		zinc finger homeobox 4							182.0	173.0	176.0					8																	77766232		2046	4192	6238	SO:0001589	frameshift_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766232delG		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7075delG	8.37:g.77766232delG	ENSP00000430497:p.Val2360fs	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.V2334fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.V2315fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.V2315fs	p.V2360fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7523	+			2315			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Frame_Shift_Del	DEL	ENST00000521891.2	37	c.7075delG	CCDS47878.2																																																																																				0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	255						13	255	---	---	---	---
CDH17	1015	broad.mit.edu	37	8	95201502	95201503	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr8:95201502_95201503delAT	ENST00000027335.3	-	3	186_187	c.62_63delAT	c.(61-63)tatfs	p.Y21fs	CDH17_ENST00000441892.2_Frame_Shift_Del_p.Y21fs|CDH17_ENST00000450165.2_Frame_Shift_Del_p.Y21fs	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	21					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTCTTGGCCATATCCAGTTGC	0.391																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(61-63)tfs		cadherin 17, LI cadherin (liver-intestine)																																				SO:0001589	frameshift_variant	1015					integral to membrane	calcium ion binding	g.chr8:95201502_95201503delAT	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.62_63delAT	8.37:g.95201504_95201505delAT	ENSP00000027335:p.Tyr21fs					CDH17_ENST00000441892.2_Frame_Shift_Del_p.Y21fs|CDH17_ENST00000450165.2_Frame_Shift_Del_p.Y21fs	p.Y21fs	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		3	186_187	-	Breast(36;4.65e-06)		21					Q15336|Q2M2E0	Frame_Shift_Del	DEL	ENST00000027335.3	37	c.62_63delAT	CCDS6260.1																																																																																				0.391	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		46	36						46	36	---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832|rs201838505	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)accfs	p.T466fs	CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.T477fs|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.T188fs|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.46																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1396-1398)cagfs		calmodulin regulated spectrin-associated protein 1																																				SO:0001589	frameshift_variant	157922					cytoplasm|microtubule		g.chr9:138715799_138715800insT	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1397dupA	9.37:g.138715808_138715808dupT	ENSP00000374183:p.Thr466fs					CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs	p.Q466fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	10	1460_1461	-			466					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Frame_Shift_Ins	INS	ENST00000389532.4	37	c.1396_1397insA	CCDS35176.2																																																																																				0.460	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		3	6						3	6	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139395110	139395114	+	Frame_Shift_Del	DEL	GCATC	GCATC	-			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr9:139395110_139395114delGCATC	ENST00000277541.6	-	31	5899_5903	c.5824_5828delGATGC	c.(5824-5829)gatgccfs	p.DA1942fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1942					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)		GCGCTTGGCGGCATCAGAGCGTGAG	0.663			"""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.(5824-5829)cfs		notch 1																																				SO:0001589	frameshift_variant	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.chr9:139395110_139395114delGCATC	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.5824_5828delGATGC	9.37:g.139395110_139395114delGCATC	ENSP00000277541:p.Asp1942fs	HNSCC(8;0.001)					p.DA1942fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	31	5899_5903	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1942					Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.5824_5828delGATGC	CCDS43905.1																																																																																				0.663	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		159	154						159	154	---	---	---	---
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-	rs371197465		TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1561-1563)del		cyclin T1				12,4250		0,12,2119						4.8	1.0			307	3,8241		1,1,4120	no	coding	CCNT1	NM_001240.2		1,13,6239	A1A1,A1R,RR		0.0364,0.2816,0.1199				15,12491				SO:0001651	inframe_deletion	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087434_49087436delATG	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1561_1563delCAT	12.37:g.49087443_49087445delATG	ENSP00000261900:p.His521del						p.H521del	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1783_1785	-			521			His-rich.		A9XU13|E7EX76|O60581	In_Frame_Del	DEL	ENST00000261900.3	37	c.1561_1563delCAT	CCDS8766.1																																																																																				0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		9	454						9	454	---	---	---	---
ARID4A	5926	broad.mit.edu	37	14	58820424	58820427	+	Frame_Shift_Del	DEL	AGAC	AGAC	-			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr14:58820424_58820427delAGAC	ENST00000355431.3	+	17	2077_2080	c.1704_1707delAGAC	c.(1702-1707)gaagacfs	p.ED568fs	ARID4A_ENST00000348476.3_Frame_Shift_Del_p.ED568fs|ARID4A_ENST00000431317.2_Frame_Shift_Del_p.ED568fs|ARID4A_ENST00000395168.3_Frame_Shift_Del_p.ED568fs|ARID4A_ENST00000553355.1_3'UTR	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	568					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAGATGAGGAAGACATGGAACCCT	0.368																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1702-1707)gafs		AT rich interactive domain 4A (RBP1-like)																																				SO:0001589	frameshift_variant	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58820424_58820427delAGAC	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1704_1707delAGAC	14.37:g.58820424_58820427delAGAC	ENSP00000347602:p.Glu568fs					ARID4A_ENST00000395168.3_Frame_Shift_Del_p.ED568fs|ARID4A_ENST00000553355.1_3'UTR|ARID4A_ENST00000348476.3_Frame_Shift_Del_p.ED568fs|ARID4A_ENST00000431317.2_Frame_Shift_Del_p.ED568fs	p.ED568fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			17	2077_2080	+			568					Q15991|Q15992|Q15993	Frame_Shift_Del	DEL	ENST00000355431.3	37	c.1704_1707delAGAC	CCDS9732.1																																																																																				0.368	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		19	52						19	52	---	---	---	---
C19orf66	55337	broad.mit.edu	37	19	10202739	10202756	+	Splice_Site	DEL	TCCCTAGAGCCCCACGTG	TCCCTAGAGCCCCACGTG	-	rs185591636	byFrequency	TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr19:10202739_10202756delTCCCTAGAGCCCCACGTG	ENST00000253110.11	+	8	941_952	c.643_654delTCCCTAGAGCCCCACGTG	c.(643-654)tccctagagcccdel	p.SLEP215del	CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000397881.3_Splice_Site_p.SLEP164del|C19orf66_ENST00000591813.1_Splice_Site_p.SLEP179del	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	215										large_intestine(3)|skin(1)	4						CACCTCTCCCTCCCTAGAGCCCCACGTGCCTGGGACAT	0.638																																						ENST00000397881.3																			0				large_intestine(3)|skin(1)	4						c.e8-1		chromosome 19 open reading frame 66																																				SO:0001630	splice_region_variant	55337							g.chr19:10202739_10202756delTCCCTAGAGCCCCACGTG		CCDS45957.1	19p13.2	2012-10-26			ENSG00000130813	ENSG00000130813			25649	protein-coding gene	gene with protein product						12477932	Standard	NM_018381		Approved	FLJ11286	uc002mmu.4	Q9NUL5		ENST00000253110.11:c.644-1TCCCTAGAGCCCCACGTG>-	19.37:g.10202739_10202756delTCCCTAGAGCCCCACGTG						C19orf66_ENST00000253110.11_Splice_Site_p.215_splice|C19orf66_ENST00000591813.1_Splice_Site_p.179_splice	p.164_splice			Q9NUL5	CS066_HUMAN			8	967_978	+			215					A8MQT9|Q4G188|Q8IYH6|Q8N8V1	Splice_Site	DEL	ENST00000253110.11	37	c.490_splice	CCDS45957.1																																																																																				0.638	C19orf66-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451129.1	NM_018381	In_Frame_Del	18	89						18	89	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT														0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			3	5						3	5	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44922770	44922770	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-A6DE-01A-22D-A31L-08	TCGA-BA-A6DE-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f	39f27aa0-73a0-4255-89fc-99eaef00d894	g.chrX:44922770delA	ENST00000377967.4	+	16	1672	c.1631delA	c.(1630-1632)cagfs	p.Q544fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.Q551fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.Q499fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.Q465fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	544	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAGCAGCCACAGCTTGCTCTG	0.562			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		8	Whole gene deletion(6)|No detectable mRNA/protein(2)	p.0?(6)|p.0(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(1630-1632)cgfs		lysine (K)-specific demethylase 6A							83.0	61.0	68.0					X																	44922770		2203	4300	6503	SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922770delA	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1631delA	X.37:g.44922770delA	ENSP00000367203:p.Gln544fs					KDM6A_ENST00000536777.1_Frame_Shift_Del_p.Q499fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.Q551fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.Q465fs	p.Q544fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			16	1672	+			544					Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.1631delA	CCDS14265.1																																																																																				0.562	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		32	28						32	28	---	---	---	---
